| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,... |
OMIM:184260 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnormality of the nec... |
ORPHA:294975 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ... |
OMIM:151210 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Short neck, Flexion contractu... |
OMIM:616897 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-... |
OMIM:600561 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Urinary incontinence, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft... |
OMIM:617927 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Thanatophoric Dysplasia, Type I |
|
Short neck, Femoral bowing, Neonatal death, Neonatal respiratory distress, Cloverleaf skull, Smal... |
OMIM:187600 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Pterygium, Anisosp... |
ORPHA:1865 |
| Catel-Manzke Syndrome |
|
Ventriculomegaly, Camptodactyly of finger, Joint stiffness, Metatarsus valgus, Micrognathia, Radi... |
ORPHA:1388 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Intestinal malrotation, Postaxial poly... |
OMIM:617866 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Edema, Macroglossia, Short ... |
ORPHA:1423 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Joint stiff... |
ORPHA:1860 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphol... |
ORPHA:2655 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Nephrolith... |
ORPHA:1837 |
| Bowen-Conradi Syndrome |
|
Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Orofa... |
ORPHA:1270 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology,... |
ORPHA:1486 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, F... |
OMIM:253000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Clinodactyly of ... |
OMIM:619110 |
| Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th... |
ORPHA:1988 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide... |
OMIM:224410 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... |
ORPHA:971 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorc... |
OMIM:611890 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Microgna... |
OMIM:241800 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing,... |
OMIM:601559 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Thoracic kypho... |
ORPHA:163649 |
| Diastrophic Dysplasia |
|
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... |
ORPHA:628 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorchidism, Wide na... |
OMIM:618393 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Abnormality of the dentition, ... |
ORPHA:1548 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Frontal bossing, Recurrent fractures, Microme... |
ORPHA:93299 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multip... |
OMIM:616570 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Thick upper lip... |
ORPHA:163654 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Abnormality of... |
ORPHA:2759 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Frontal bossing, Micromelia, Abnormal enchondral ossification, Microg... |
ORPHA:93298 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,... |
OMIM:608022 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Craniosynostosis, Humeroradial synostosis,... |
OMIM:251230 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Cleft soft palate,... |
ORPHA:2756 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th... |
ORPHA:93267 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Ulnar deviation of the hand, Micrognathia, Short neck, Wide anterior ... |
OMIM:263210 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodyspl... |
ORPHA:163966 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, ... |
ORPHA:75840 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Wide nasal bri... |
ORPHA:281 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilater... |
OMIM:617194 |
| Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... |
OMIM:253010 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ... |
ORPHA:3035 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Recurrent respiratory infections, Redundant neck skin, ... |
ORPHA:1842 |
| Mosaic Trisomy 14 |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Short neck, Cryptor... |
ORPHA:1703 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide na... |
ORPHA:1825 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Redundant neck skin, Single transverse palmar crease, Short n... |
OMIM:236500 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis... |
ORPHA:40 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly... |
ORPHA:3098 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Dolichocep... |
OMIM:617895 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:612651 |
| Raine Syndrome |
|
Micromelia, Micrognathia, Short neck, Brachycephaly, High palate, Neonatal death, Microdontia, Lo... |
OMIM:259775 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Clinodactyly, Ventriculomegaly, Joint hypermobility, Abnormality of the dentition |
ORPHA:500166 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short middle phalanx of the 5th finger, Wide mouth, Short distal phalanx of the 5th finger, Conge... |
OMIM:113477 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Micrognathia, Kyphosis, Deep philtrum, Wide nasal bridge, Brachycephaly... |
OMIM:615834 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, Death in child... |
OMIM:613320 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... |
ORPHA:1277 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal syno... |
ORPHA:1307 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Brachydactyly, Neonatal respiratory distress, Increased intervertebr... |
OMIM:618961 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
| Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, Camptodactyly of finger,... |
ORPHA:137834 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Flat aceta... |
OMIM:614091 |
| Achondrogenesis |
|
Thickened nuchal skin fold, Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossifi... |
ORPHA:932 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Camptodactyly of finger, Tarsal sy... |
ORPHA:2633 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... |
ORPHA:2370 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Broad hallux, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, Short toe, 2... |
OMIM:618659 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Scoliosis... |
OMIM:300934 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo... |
ORPHA:916 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Short neck, Abnormal lung lobation, Hemivertebrae, Orofacial cleft, High palate, Sh... |
ORPHA:958 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis |
ORPHA:111 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Sho... |
ORPHA:3309 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil... |
OMIM:612530 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
| Tetrasomy X |
|
Abnormality of the dentition, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clino... |
ORPHA:9 |
| Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff... |
OMIM:614399 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Abnormality of the ureter, Upper limb... |
ORPHA:3266 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Midface retrusion, Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sh... |
OMIM:118651 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, High palate, Short finger, Broad thumb, Ventriculomegaly |
OMIM:300209 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Midface r... |
ORPHA:3219 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Pelviscapular Dysplasia |
|
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Redundant neck sk... |
ORPHA:93333 |
| Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Tal... |
OMIM:618011 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Recurrent respiratory infections, Overlapping toe, Exaggerate... |
OMIM:618316 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Multiple joint contractures, Single transverse palmar crease, Microgn... |
OMIM:618291 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi... |
ORPHA:2167 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo... |
OMIM:619293 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Pierpont Syndrome |
|
Short neck, Brachycephaly, Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent s... |
OMIM:602342 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Single transverse palmar crease, Short neck, Dolichocephaly, Kyphosis, Cr... |
ORPHA:178148 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Sandal gap, High, narrow palate, Cryptorchidism, Abnormal finger m... |
ORPHA:3051 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas... |
ORPHA:85287 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Triangular m... |
ORPHA:166024 |
| Congenital Disorder Of Glycosylation, Type In |
|
Micrognathia, Short neck, Respiratory insufficiency, Pes valgus, Recurrent lower respiratory trac... |
OMIM:612015 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Oxycephaly, Short long bone, Limb undergrowth, Short nose, Cystic hy... |
ORPHA:221054 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow di... |
OMIM:264180 |
| Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scol... |
ORPHA:2437 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Short neck, Elbow flexion contract... |
OMIM:616809 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Torticollis, Micrognathia, Short neck, Narrow palate, Femoral bow... |
OMIM:617022 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Three M Syndrome 1 |
|
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... |
OMIM:273750 |
| Pierpont Syndrome |
|
Joint laxity, Pes planus, Thin upper lip vermilion, Short neck, Cryptorchidism, Short toe, Brachy... |
ORPHA:487825 |
| Schneckenbecken Dysplasia |
|
Short neck, Snail-like ilia, Dumbbell-shaped long bone, Flat acetabular roof, Advanced tarsal oss... |
OMIM:269250 |
| Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... |
OMIM:245650 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi... |
ORPHA:582 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Narrow mouth, Whistling a... |
OMIM:277720 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H... |
ORPHA:239 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle... |
ORPHA:2990 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Sacral dimple, Craniosynostosis, Micrognathia, Short neck, Dolichocephaly, Hydro... |
ORPHA:1516 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Gingival overgrowth, Gingival fibromatos... |
ORPHA:1832 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate, Short nose, Abnormal vertebral ... |
ORPHA:2015 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal... |
ORPHA:2145 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... |
ORPHA:1426 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Short neck, Wide anterior fontanel, High, narrow palate, Narrow mou... |
OMIM:248700 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... |
ORPHA:536471 |
| Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Micrognathia, Short neck, Tibial bowing, Knee dislocation, Radial bowing, Rhiz... |
OMIM:108721 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon... |
ORPHA:1692 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromeli... |
OMIM:616546 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infections, Short neck... |
ORPHA:61 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc... |
OMIM:616331 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, ... |
ORPHA:3181 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Dolichocephaly, Mul... |
OMIM:618395 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Death in childhoo... |
OMIM:618766 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... |
ORPHA:3429 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
| Primary Basilar Invagination |
|
Platybasia, Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... |
OMIM:606242 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Short palm, ... |
ORPHA:93351 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, Single transverse palmar crease, Micrognathia, S... |
ORPHA:96334 |
| Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Low poster... |
ORPHA:1803 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomeli... |
OMIM:607143 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly, Gingival overgrowth |
OMIM:619323 |
| Trisomy 4P |
|
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h... |
ORPHA:1738 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... |
ORPHA:50945 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Micromelia, Kyphosis, Hydrocephalus, Limitation... |
ORPHA:93274 |
| Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Spinal rigidity, Neck joint contracture, Flexion cont... |
ORPHA:209951 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Thick lower lip vermilio... |
ORPHA:969 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Wide nasal bridge,... |
ORPHA:2107 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... |
ORPHA:83468 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Micrognathia, Unilateral ren... |
OMIM:618142 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morp... |
ORPHA:166100 |
| 48,Xyyy Syndrome |
|
Pes planus, Short neck, Abnormal foot morphology, Asthma, Thick lower lip vermilion, Recurrent up... |
ORPHA:99329 |
| C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Ac... |
OMIM:211750 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join... |
ORPHA:1147 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft p... |
ORPHA:376 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped d... |
ORPHA:1617 |
| Mohr Syndrome |
|
Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty... |
OMIM:252100 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Fron... |
ORPHA:166272 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Broad hallux phalanx, Toe syndactyly, Open bite, High palate, Ventriculomegaly |
ORPHA:168624 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Micrognathia, Cryptorchidism, Cleft palate,... |
ORPHA:994 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
| Kagami-Ogata Syndrome |
|
Frontal bossing, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thi... |
OMIM:608149 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Noonan Syndrome 13 |
|
Micrognathia, Short neck, High palate, Widely spaced teeth, Microdontia, Long philtrum, Joint lax... |
OMIM:619087 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Multiple joint contractures, Abnormality of the tongue muscle, Cr... |
ORPHA:370968 |
| Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
| Distal Monosomy 7Q36 |
|
Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Pectus excavatum, Cleft palate, ... |
ORPHA:1636 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal pha... |
OMIM:300863 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Micrognathia |
ORPHA:141152 |
| Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polyda... |
OMIM:614815 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Genu recurvatum, Flexion contracture, Wide nasal bridge, Wide mouth, High palate, Tal... |
OMIM:614066 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Short neck, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Neon... |
OMIM:617925 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Dolichocephaly, Short nose, Brachy... |
OMIM:617752 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Ventriculomegaly |
OMIM:616540 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,... |
OMIM:277300 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Abnormal pelvic ... |
ORPHA:2928 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
| Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Respiratory insuf... |
ORPHA:1914 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... |
ORPHA:440354 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... |
OMIM:601357 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ... |
ORPHA:250994 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Braddock Syndrome |
|
Congenital muscular torticollis, Neonatal respiratory distress, Micrognathia, Short neck, Preaxia... |
ORPHA:52047 |
| Three M Syndrome 3 |
|
Frontal bossing, Short neck, Hyperlordosis, Increased vertebral height, Dolichocephaly, Slender l... |
OMIM:614205 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand pol... |
OMIM:314390 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, Short neck, High, narrow palate, Dyspnea, Hypopla... |
ORPHA:3015 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Orofacial cleft, Short palm, Clinod... |
ORPHA:915 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Polyhydramnios, Abnormal limb bone morphology, Hydrops fetalis, L... |
ORPHA:2204 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocat... |
OMIM:615777 |
| Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th... |
ORPHA:1240 |
| Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Metatars... |
OMIM:601680 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Toe syn... |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... |
OMIM:269860 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, S... |
ORPHA:2570 |
| Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
| Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina bifi... |
OMIM:193700 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis m... |
OMIM:619501 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Pulmonary hypoplasia, Clinodactyly of the 5th finger, Decreased skull... |
OMIM:601163 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Cleft palate, Narrow pelvis bon... |
ORPHA:66637 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Low posterior hairline, Wide mouth, Everted lower lip vermili... |
ORPHA:2429 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pes planus, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency... |
OMIM:300978 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, Craniosynostosis, 1-3 toe syndactyly, Preaxial h... |
OMIM:175700 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn... |
ORPHA:177 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Short neck, Abnormal foot morphology, Cryptorchidism, Short ... |
ORPHA:369891 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... |
OMIM:253300 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Respiratory insufficiency, High palate, Pulmonary... |
OMIM:255320 |
| Masa Syndrome |
|
Clinodactyly of the 5th finger, Ventriculomegaly, Camptodactyly of finger, Hand clenching |
ORPHA:2466 |
| Cofs Syndrome |
|
Death in infancy, Prominent metopic ridge, Talipes, Camptodactyly of finger, Micrognathia, Joint ... |
ORPHA:1466 |
| Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Short neck, Small hand, ... |
ORPHA:1425 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Short neck, Brachycephaly, Increased bone minera... |
ORPHA:1798 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B... |
OMIM:619148 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... |
OMIM:619879 |
| Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... |
ORPHA:3027 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati... |
OMIM:183900 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral... |
OMIM:615222 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth |
OMIM:613124 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate, Amelogenesis imperfec... |
OMIM:618363 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Respiratory insu... |
ORPHA:474 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Midface retrusion, Lumbar hyperlordosis, Rhizomelia, Short nec... |
OMIM:612813 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ... |
OMIM:258480 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Sagittal craniosynostosi... |
OMIM:145420 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barrel-shaped chest, Lumbar... |
OMIM:607095 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Rest... |
OMIM:608681 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... |
OMIM:611209 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Fetal ascites, Squared ilia... |
OMIM:215045 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis |
OMIM:614876 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hydrocephalus, Gingival overgrowth, Hydrops fetalis, Nephrotic syndrome, High palate,... |
OMIM:269920 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Shor... |
OMIM:300590 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Short nose, Brachycephaly, Wide mouth, Sc... |
OMIM:615419 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener... |
ORPHA:53 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Microg... |
ORPHA:1801 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Pectus excavatum, Cryptorchidism, Small hand, Wide nasal bridge, Wide m... |
OMIM:614684 |
| Ring Chromosome 6 Syndrome |
|
Short neck, Wide nasal bridge, Respiratory insufficiency, Low posterior hairline, Short distal ph... |
ORPHA:1448 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Apnea, Micromelia, Bowing of the legs, Cranio... |
OMIM:241500 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Micrognathia, Short neck, Hamstring contractures, Patellar dislocation, Osteochon... |
ORPHA:96183 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Alg3-Cdg |
|
Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tub... |
ORPHA:79321 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Communicating hydrocephalus,... |
OMIM:618188 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Pterygium, Short metacarpal, Radial bowi... |
OMIM:211350 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, High palate, Short philtrum, Biparietal narrowing, Short palm, Clinodactyly of the 5t... |
ORPHA:85293 |
| Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, High palate, Widely spaced teeth, Advanced eruption of tee... |
ORPHA:192 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phoco... |
ORPHA:3404 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Recurrent respiratory infections, Single transverse ... |
OMIM:618950 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis, Micrognathia |
ORPHA:1538 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Spina ... |
ORPHA:1120 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe synd... |
OMIM:613443 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Short neck, Lower limb asymmetry, Abnormal tibia morphology, Respiratory insuffici... |
ORPHA:2487 |
| 17P13.3 Microduplication Syndrome |
|
Frontal bossing, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly ... |
ORPHA:217385 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary... |
ORPHA:86822 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Kbg Syndrome |
|
Vertebral fusion, Thin upper lip vermilion, Persistent open anterior fontanelle, Macrodontia, Sin... |
ORPHA:2332 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Trigonocephaly, Wide mouth, Delayed eruption of perm... |
OMIM:618506 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Kyphosis, Cryptorchidism, Thick lower lip vermilion, Small ... |
OMIM:300354 |
| Distal Duplication 18Q |
|
Thickened nuchal skin fold, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, ... |
ORPHA:1716 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Scoli... |
ORPHA:2590 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Micrognathia, Meta... |
OMIM:616266 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita, Widening ... |
OMIM:253310 |
| Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... |
OMIM:239850 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Micrognathia, Tapered finger, Narrow mouth, Short neck, Wide nasal bridge, Narro... |
OMIM:620250 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Joint laxity, Arachnodactyly, Glomerulonephritis, Chronic kidney disease, High palate, Ventriculo... |
ORPHA:2172 |
| 49,Xxxxy Syndrome |
|
Short neck, Pulmonary embolism, Brachycephaly, Holoprosencephaly, Clinodactyly of the 5th finger,... |
ORPHA:96264 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... |
OMIM:224400 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... |
OMIM:187601 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of t... |
ORPHA:3082 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly |
ORPHA:945 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Scapular winging, Short neck, Spinal rigidity, Achilles tendon contracture, Respirator... |
OMIM:300696 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,... |
ORPHA:1146 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Joint laxity, Single transverse palmar crease, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, ... |
ORPHA:502434 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Pneumonia, Short neck, Thin lower lip vermilion, Short metatarsal, ... |
OMIM:613328 |
| Hypochondroplasia |
|
Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hy... |
OMIM:146000 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... |
ORPHA:2754 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Neonatal respiratory distress, Miscarriage, Bilateral cryptorchidism, Preaxial hand p... |
ORPHA:96179 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Bra... |
OMIM:263520 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re... |
OMIM:276950 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Lowe... |
OMIM:615761 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Downturned corners of mout... |
OMIM:619297 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os... |
ORPHA:93315 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Limited knee flexion/extension, R... |
ORPHA:266 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... |
ORPHA:2021 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint... |
OMIM:618870 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Cryptorchidism, Narrow palm, Hip dislocation, Narrow... |
OMIM:619435 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Micrognathia, Short neck, Narrow mouth, Calcaneovalgus deformity, Fl... |
ORPHA:562528 |
| Microtriplication 11Q24.1 |
|
Joint dislocation, Short neck, Metatarsus adductus, Limitation of joint mobility, Small hand, Cle... |
ORPHA:289522 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teet... |
OMIM:253220 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T... |
ORPHA:583 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
| Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Short neck, Wide nasal bridge, Orofacial cleft, Resp... |
OMIM:618804 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Enlarged joints, Tapered finger, Short neck, Pectus excava... |
OMIM:607131 |
| 48,Xxxy Syndrome |
|
Short neck, Pulmonary embolism, Brachycephaly, Clinodactyly of the 5th finger, Abnormal dental en... |
ORPHA:96263 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micrognathia, Long nose, Short neck, High palate, Short philtrum, Clinodactyly of the 5th finger,... |
OMIM:620224 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Joint stiffness, Micrognathia, High, narrow palate, Short neck, Abnormal lung lobation, Cleft pal... |
ORPHA:2516 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia... |
ORPHA:1597 |
| Alg9-Cdg |
|
Micrognathia, Short neck, Abnormal lung lobation, Brachycephaly, Narrow greater sciatic notch, Ab... |
ORPHA:79328 |
| Microphthalmia, Syndromic 12 |
|
Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft palate, Pulmonary hypoplasia, Neonatal death |
OMIM:615524 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Tapered finger, Wide mouth, High pal... |
OMIM:618825 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Joint hypermobil... |
OMIM:618853 |
| Tarp Syndrome |
|
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchi... |
ORPHA:2886 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes... |
OMIM:617333 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Ventriculomegaly, Tapered finger, Metatarsus adductus, Cryptorchidism, Extra-axial cerebrospinal ... |
OMIM:619180 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Patellar hypoplasia, High palate, Short ph... |
ORPHA:3041 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
| Trisomy 17P |
|
Prominent metopic ridge, Talipes, Micrognathia, Tapered finger, Short neck, Hydrocephalus, Flexio... |
ORPHA:261290 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
| Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodactyly of finger, A... |
ORPHA:2994 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, High palate, Wrist... |
OMIM:121050 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Micrognathia, Elbow ... |
ORPHA:93329 |
| Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Short neck, Deep philtrum, Narrow foot,... |
OMIM:610954 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Flat occiput, Anterior concavity of thoracic vertebrae, Microgna... |
OMIM:249420 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Gand Syndrome |
|
Long toe, Thin upper lip vermilion, Long fingers, Wide nasal bridge, Wide mouth, Short philtrum |
OMIM:615074 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
| 3Q13 Microdeletion Syndrome |
|
Abnormality of the hand, Short neck, Joint stiffness, Cryptorchidism, Wide nasal bridge, Long phi... |
ORPHA:1621 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Ti... |
ORPHA:251028 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Cryptorchidism, Small hand... |
OMIM:300882 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Vertebral clefting, Brachycephaly, Coronal cleft vertebrae, Hig... |
OMIM:616854 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Pes planus, Everted upper lip vermilion, Genu recurvatum, Generalized joint laxity, Wide mouth, H... |
ORPHA:280763 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, High palate, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Short neck, Kyphosis, Hip dislocation, Brachycephaly, Wide mouth, Long philtrum,... |
OMIM:608776 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Cryptorchidism, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Cleidocranial Dysplasia |
|
Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Glossoptosis, Hypoplastic... |
ORPHA:1452 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... |
ORPHA:65759 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3319 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne... |
ORPHA:2257 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Frontal bossing, Joint... |
OMIM:252940 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
| Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra... |
ORPHA:280384 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Low... |
ORPHA:2983 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Brachycephaly, High ... |
OMIM:201000 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Hurler Syndrome |
|
Short neck, Abnormal vertebral morphology, Death in infancy, Abnormal rib morphology, Wide nasal ... |
ORPHA:93473 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger... |
OMIM:147800 |
| Coffin-Siris Syndrome 3 |
|
Joint laxity, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Del... |
OMIM:614608 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Clinoda... |
OMIM:266920 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Brachycephaly, Webbed neck, Kne... |
OMIM:245600 |
| Developmental And Epileptic Encephalopathy 87 |
|
Single transverse palmar crease, Wide mouth, Widely spaced teeth, High palate, Scoliosis, U-Shape... |
OMIM:618916 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| 3C Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Death in infancy, Frontal bossing, Missing r... |
ORPHA:7 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Post... |
OMIM:614175 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Hydrocephalus, Unil... |
OMIM:618577 |
| Trisomy 20P |
|
Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:261318 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Short neck, Cryptorchidism, Brachycephaly, Wide mouth, Macroglossia, Plagiocepha... |
OMIM:616789 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Pes planus, Broad hallux, Short neck, 2-3 toe syndactyly, Low posterior hairline, Short foot, Dow... |
OMIM:300860 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Pes planus, Macrodontia, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, C... |
OMIM:212066 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation,... |
ORPHA:2181 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Webbed neck, C... |
OMIM:244600 |
| Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Non-... |
ORPHA:1752 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Broad hallux... |
OMIM:620073 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Eruption failure, High palate, Sh... |
OMIM:166250 |
| Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Micrognathia, Ventriculomegaly, Adducted thumb |
ORPHA:3207 |
| Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Hyperlordosis, Parietal foramina, Small hand, Short foot, Wide mouth, B... |
OMIM:617450 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventriculomegaly, Hydrocephalus, Polydactyly, Smooth philtrum |
OMIM:602501 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hydrocephalus, Flexion contracture, Small hand |
OMIM:300884 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Recurrent respiratory infections, Dental crowding, Short neck, Brachycephaly, Broa... |
ORPHA:320385 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop... |
OMIM:617063 |
| Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... |
OMIM:611816 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Azoospermia, Cubitus valgus, Short 4th metacarpal |
ORPHA:2183 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, High, narrow palate, Sandal gap, Ventriculomegaly |
ORPHA:2515 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Tapered finger, Short nec... |
OMIM:616801 |
| Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bifid uvula, Osteomalacia, ... |
ORPHA:2671 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High ... |
OMIM:616145 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Neonatal death, Pulmona... |
OMIM:619003 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Flexion contracture, Hyd... |
ORPHA:314588 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
| Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Micr... |
ORPHA:3376 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... |
ORPHA:171839 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck,... |
ORPHA:3101 |
| Alazami Syndrome |
|
Wide nasal bridge, Wide mouth, Retractile testis, Thick vermilion border, Short philtrum, Widely ... |
OMIM:615071 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr... |
ORPHA:175 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Frontal bossing, Scapular winging, Lumbar hyperlordosis, Short neck, H... |
OMIM:612921 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Pes planus, Prominent metopic ridge, Midface retrusion, Arachnodactyly, Frontal bos... |
OMIM:619721 |
| Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Oxycephaly, Pulmonary hypop... |
OMIM:200995 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Clinodactyly, Hydronephrosis, Abnormal palate morphology |
ORPHA:251046 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... |
ORPHA:314795 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Ascites, Micropenis, Decreased skull ossific... |
OMIM:602361 |
| Congenital Myopathy 17 |
|
Tented upper lip vermilion, Overlapping toe, Tapered finger, Respiratory tract infection, Pectus ... |
OMIM:618975 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Abnormal form of the vertebral bodies, Downturned corners of mouth, High palate, S... |
ORPHA:1327 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Flat occiput, Single transverse palmar crease, Micrognathia, High, narrow pa... |
OMIM:214100 |
| Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Recurrent respiratory infections, Death in infancy, Horizontal ribs, Earl... |
OMIM:208500 |
| 4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Micromelia, Abnormality of the dentition, Short neck, Kyphosis, ... |
ORPHA:238750 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... |
OMIM:611174 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... |
OMIM:607014 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobation, Talipes calcaneova... |
ORPHA:818 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Recurrent respiratory infections, Multiple joint contractures, Short neck, Flexion contracture, R... |
OMIM:618065 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Long nose, Short n... |
ORPHA:2636 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:305450 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single tran... |
ORPHA:508488 |
| Temple Syndrome |
|
Decreased testicular size, Micrognathia, Cryptorchidism, Hydrocephalus, Flexion contracture, Smal... |
OMIM:616222 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl... |
ORPHA:1106 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Edema, Short tubular b... |
OMIM:200610 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Abnormality of th... |
ORPHA:576283 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
| Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Talipes equinovarus, Scoliosis, Camptod... |
OMIM:618436 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Wide ante... |
OMIM:616482 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Moebius Syndrome |
|
Respiratory distress, Micrognathia, Short neck, High palate, Lower limb undergrowth, Short phalan... |
OMIM:157900 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
| Opsismodysplasia |
|
Recurrent respiratory infections, Abnormally ossified vertebrae, Flat occiput, Frontal bossing, T... |
ORPHA:2746 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Turricephaly, Short neck, Hyperlordosis, Wide nasal bridge, Sym... |
ORPHA:710 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Midface retrusion, Lumbar hyperlordosis, Rhizomelia, Short nec... |
ORPHA:171866 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad ... |
OMIM:300602 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney... |
OMIM:248340 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Thin ribs, Respiratory failure, Pulmonary hypop... |
ORPHA:171430 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky... |
ORPHA:508533 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short neck, Low posterior hairline, Cubitus valgus, Decreased testicular size |
ORPHA:261524 |
| Monosomy 18P |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Wide nasal bridge, Cle... |
ORPHA:1598 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t... |
ORPHA:93932 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Craniofrontonasal Dysplasia |
|
Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finger syndactyly, B... |
ORPHA:1520 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress |
OMIM:615993 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Webbed neck, Downturned corners of mouth, Pulmonary artery atresia, Sho... |
OMIM:616894 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa... |
OMIM:610682 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Chronic kidney disease, Hydrocephalus, Cone-shaped epiphyses of the p... |
OMIM:615630 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Deep philtrum, Flexion... |
OMIM:619720 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Down-sloping shoulders, Kyphoscoliosis, Deviation of the ... |
ORPHA:391408 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Flat occiput, Overlapping toe, Down-sloping shoulders, T... |
OMIM:617452 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| 2Q23.1 Microduplication Syndrome |
|
Thin upper lip vermilion, Broad hallux, Sandal gap, Abnormality of the hand, Dental crowding, Abn... |
ORPHA:313947 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Rocker bottom foot, Short neck, Flexion contracture, Low posterior hairl... |
ORPHA:261519 |
| Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental ... |
OMIM:608545 |
| Hogue-Janssen Syndrome 2 |
|
Ventriculomegaly, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Unilateral ren... |
OMIM:616362 |
| Renal Tubular Dysgenesis |
|
Joint hyperflexibility, Pulmonary hypoplasia, Bilateral single transverse palmar creases |
ORPHA:3033 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... |
OMIM:611555 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Long nose, Pectus excavatum, Hydrocephalus... |
OMIM:618590 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Rhizomelia, Short proximal phalanx of finger, Wide ant... |
OMIM:616638 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Preaxial foot p... |
OMIM:603671 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Wieacker-Wolff Syndrome |
|
Smooth philtrum, Neonatal respiratory distress, Apnea, Proximal placement of thumb, Micrognathia,... |
OMIM:314580 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Pes planus, Micrognathia, Short neck, Supernumerary tooth, Gingival fibromatosis, ... |
ORPHA:3473 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Short neck, Cryptorchidism, Duplication of phalanx of ... |
OMIM:243310 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension,... |
OMIM:180870 |
| Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Wide nasal bridge, Cle... |
OMIM:612913 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Micrognathia, Missing ribs, Short neck, Hydrocephalus, Abnormal rib morp... |
ORPHA:1834 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Micrognathia, Narrow mouth, Carious teeth... |
OMIM:272430 |
| German Syndrome |
|
Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Limitation of joint mobility, ... |
ORPHA:2077 |
| Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Bifid uvula, Joint laxity, Wide anterior fontanel, Cryptorchidism, Wide ... |
OMIM:607812 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Crowded maxillary incisors, Cryptorc... |
ORPHA:2063 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
| Peho-Like Syndrome |
|
Edema, Open mouth, Ventriculomegaly, Tapered finger |
OMIM:617507 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Diastema, Wide mouth, Short distal phalanx of finger |
OMIM:618470 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Apnea, Micrognathia, Hypoplastic ilia, Cryptorchidism... |
ORPHA:85201 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Frontal bossing, Rocker bottom foot... |
OMIM:619762 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Wide na... |
OMIM:617809 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, High, narrow palate, Brachycephaly, Knee flexion contrac... |
OMIM:613776 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Limitation of joint mobility |
ORPHA:99966 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Frontal bossing, Osteomalacia, Recurrent fractures, Premature loss of primary ... |
ORPHA:93160 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Micrognathia, Hemivertebrae, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, Sho... |
OMIM:156200 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Recurrent respiratory infections, Thora... |
OMIM:616716 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Recurrent ... |
OMIM:613849 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Small hand, Co... |
OMIM:618618 |
| Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Shoulder girdle muscle weakness, Respiratory failure, Spinal rigidity |
OMIM:604801 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Pentalogy Of Cantrell |
|
Encephalocele, Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Hydrocephal... |
ORPHA:1335 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Branchial cyst, Short neck, Hip disloca... |
OMIM:615583 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Short ... |
ORPHA:798 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Thick lower lip vermilion, Wide ... |
ORPHA:2058 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Micrognathia, Spinal rigidity, Flexion contracture, High ... |
OMIM:618524 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Small hand... |
ORPHA:1787 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Dolichocephaly, Abnormal foot morphology, Flexion contractu... |
OMIM:618186 |
| Distal Duplication 15Q |
|
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint sti... |
ORPHA:1707 |
| Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Micrognathia, Osteopathia striata, High palate, Short philtrum, Finger ... |
OMIM:212720 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... |
ORPHA:2658 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m... |
ORPHA:584 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
| Xp22.13P22.2 Duplication Syndrome |
|
Tapered finger, Short neck, Pectus excavatum, Recurrent upper respiratory tract infections, Small... |
ORPHA:284180 |
| Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Enamel hypoplasia, Hypo... |
OMIM:253250 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot |
OMIM:183700 |
| Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Abnormal lung lobation, Hemivertebrae, Finger clinodactyly,... |
ORPHA:99776 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... |
OMIM:616081 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractu... |
OMIM:600081 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis |
OMIM:123155 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... |
ORPHA:3258 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Sagittal craniosynostosis, Trigonocephaly, Pectus excavatum, Thick lowe... |
OMIM:618027 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Micrognathia, Long fingers, Wide nasal bridge, Wide mouth, Median ... |
OMIM:619648 |
| Melnick-Needles Syndrome |
|
Micrognathia, Anisospondyly, Abnormal rib morphology, Cone-shaped epiphyses of the phalanges of t... |
ORPHA:2484 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... |
OMIM:114290 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Flat occiput, Micrognathia, Short neck, Downturned corners of mouth, High p... |
ORPHA:177907 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture,... |
OMIM:616549 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph... |
OMIM:602200 |
| Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Microgna... |
OMIM:614541 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Pes planus, Arachnodactyly, Micrognathia, Hyperlordosis, Wide mouth, High palate, S... |
OMIM:300986 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Short ... |
OMIM:309583 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Hypoplasi... |
ORPHA:1512 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
| Achondrogenesis, Type Ib |
|
Edema, Micromelia, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth, Short ribs, Abs... |
OMIM:600972 |
| Edinburgh Malformation Syndrome |
|
Joint stiffness, Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Downturned... |
ORPHA:1895 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... |
OMIM:609637 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Frontal bossing, Sacral dimple, Micrognathia, Short neck, Long fingers, Increased nucha... |
OMIM:615668 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Micrognathia, Hydrocephalus, Bilateral renal hypoplasia,... |
OMIM:243605 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pes planus, Thin upper lip vermilion, Single transverse palmar crease, Diastema, Cryptorchidism, ... |
ORPHA:329224 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Long neck, Deep philtr... |
OMIM:227330 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Micrognathia, Generalized osteosclerosis, High palate, Hypop... |
ORPHA:763 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Partial duplica... |
ORPHA:363417 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
| Rafiq Syndrome |
|
Joint laxity, Smooth philtrum, Thin upper lip vermilion, Flat occiput, Short neck, Flexion contra... |
OMIM:614202 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Arachnodactyly, Frontal bo... |
ORPHA:371364 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... |
ORPHA:1553 |
| Cardiofaciocutaneous Syndrome 3 |
|
Short neck, Pectus excavatum, Reduced bone mineral density, Wide mouth, Scoliosis, Webbed neck |
OMIM:615279 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
| Hydrolethalus |
|
Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Submucous c... |
ORPHA:2189 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... |
ORPHA:505237 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Webbed neck, M... |
OMIM:613458 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... |
ORPHA:2549 |
| Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Achilles te... |
ORPHA:178382 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordos... |
OMIM:252605 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... |
ORPHA:2319 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Talipes, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Narrow mou... |
ORPHA:1495 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Pes planus, Thin upper lip vermilion, Sacral dimple, Single transverse palmar creas... |
OMIM:613544 |
| Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, 2-3 toe cu... |
OMIM:609625 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... |
ORPHA:53271 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Cryptorchidi... |
ORPHA:1387 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Distal Duplication 17Q |
|
Hallux valgus, Joint laxity, Thin upper lip vermilion, Frontal bossing, Overlapping toe, Arachnod... |
ORPHA:3379 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Respiratory insufficienc... |
OMIM:615633 |
| Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of t... |
OMIM:618958 |
| Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... |
ORPHA:235 |
| Noonan Syndrome 14 |
|
Pes planus, Scapular winging, Short neck, Pectus excavatum, High, narrow palate, Kyphosis, Crypto... |
OMIM:619745 |
| 7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Torticollis, Asthma, Clinodactyly of the 2nd finger, Wide mouth... |
ORPHA:251061 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck,... |
OMIM:301041 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period... |
ORPHA:955 |
| Fontaine Progeroid Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Oligodontia, Microdontia, Neonatal death, Recur... |
OMIM:612289 |
| Distal Deletion 10P |
|
Micrognathia, Joint stiffness, Short neck, Non-midline cleft lip, Abnormality of the elbow, Crypt... |
ORPHA:1580 |
| Megalencephaly |
|
Frontal bossing, Short neck, Wide nasal bridge, Genu valgum, Prominent occiput, Dolichocephaly, M... |
ORPHA:2477 |
| Fibrochondrogenesis 2 |
|
Frontal bossing, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Short nose, H... |
OMIM:614524 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Apnea, Hydrocephalus, Recurrent pneumonia, Wide mouth, Macroglossia, Re... |
OMIM:616260 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Bilater... |
OMIM:619708 |
| 17P11.2 Microduplication Syndrome |
|
Abnormal dental morphology, Micrognathia, Open bite, Wide mouth, Scoliosis |
ORPHA:1713 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, ... |
ORPHA:85199 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Dolichocephaly, Rib fusion, Hemivert... |
OMIM:271520 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Thoracic kyph... |
OMIM:616503 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Micrognathia, Abnormality of the dentition, Short neck, Achilles tendon contr... |
ORPHA:363528 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Pectus excavatum, ... |
ORPHA:2522 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... |
OMIM:277440 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Congenital contracture... |
OMIM:620156 |
| Diencephalic Syndrome |
|
Large hands, Long penis, Everted lower lip vermilion, Hydrocephalus |
ORPHA:1672 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Abnormal lung morphology, Wide mouth, C... |
ORPHA:1708 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Holoprosencepha... |
OMIM:202650 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Overlapping fingers, Overlapping toe, Edema, Micrognathia, Pericardial effusion... |
OMIM:617822 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Flat occiput, Bilateral single transverse palmar creases, Abnormality of the wrist... |
ORPHA:2511 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Micrognathia, Short neck, Long fingers, High, narrow palate, Cryptorch... |
ORPHA:96092 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Metaphyseal irreg... |
OMIM:617982 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Kne... |
OMIM:620249 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus, Narrow mouth |
ORPHA:83473 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal ep... |
ORPHA:2770 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, High palate, Wrist flexion contracture, P... |
ORPHA:800 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Frontal bossing, Carious teeth, Posterior wedging of verte... |
ORPHA:50814 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Cog7-Cdg |
|
Micrognathia, Short neck, Long fingers, Abnormal finger morphology, Narrow mouth, Adducted thumb |
ORPHA:79333 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Hip dysplasia, High palate, Ventriculomegaly |
OMIM:619701 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n... |
OMIM:229850 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, Joint hyperflexib... |
ORPHA:1035 |
| Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Short neck, Rib fusion, Hemivertebrae, Cleft palate, Low posterior hairline, Wid... |
ORPHA:1394 |
| Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Cryptorch... |
OMIM:616737 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Fryns Syndrome |
|
Thickened nuchal skin fold, Tented upper lip vermilion, Median cleft lip, Micrognathia, Short nec... |
ORPHA:2059 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Cleft palate, Poly... |
OMIM:613885 |
| Radio-Tartaglia Syndrome |
|
Pes planus, Thin upper lip vermilion, Frontal bossing, Dental crowding, Micrognathia, Tapered fin... |
OMIM:619312 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... |
ORPHA:263508 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Hydrocephalus, Abnorma... |
ORPHA:3301 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Pariet... |
OMIM:264090 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
| Myhre Syndrome |
|
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor... |
OMIM:139210 |
| Dysspondyloenchondromatosis |
|
Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum, Metaphyseal en... |
ORPHA:85198 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
| Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postaxial hand polydactyly, D... |
OMIM:619143 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
| Typical Nemaline Myopathy |
|
Micrognathia, Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Spinal r... |
ORPHA:171436 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Flat occiput, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, B... |
ORPHA:2707 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Increased sus... |
ORPHA:561 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Hip dy... |
ORPHA:531151 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... |
OMIM:101600 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Short neck, Kyphosis, Asthma, Split hand, Flexion contracture, Thick l... |
OMIM:309900 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Ventriculomegaly, Reduced bone mineral density |
OMIM:620200 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
| Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Hypospadias, Cleft palate |
OMIM:302905 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Tapered finger, Flexion contracture, Narrow palate, Respiratory failu... |
OMIM:616505 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Pierre-Robin sequence, G... |
OMIM:613604 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Cleft palate, W... |
OMIM:614607 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Thickened nuchal skin fold, Short femur, Pneumothorax, Pulmonary hypoplasia... |
OMIM:620306 |
| Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Polyhydramnios, Pyloric stenosis, Hydrocephalus, Flexion contracture, Dental malo... |
OMIM:310400 |
| 2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, N... |
ORPHA:251019 |
| Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... |
OMIM:601358 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus |
OMIM:129850 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Downturned corners of mouth, Advanced eruption of teeth, Long ph... |
ORPHA:2215 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia of the pectoralis ... |
ORPHA:1358 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Abnormality of the elbow... |
ORPHA:2701 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr... |
OMIM:606071 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Short neck... |
OMIM:613686 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Frontal bossing, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractu... |
OMIM:241530 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... |
OMIM:264700 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:250999 |
| Developmental And Epileptic Encephalopathy 70 |
|
Polyhydramnios, Cryptorchidism, Flexion contracture, Narrow mouth, Ventriculomegaly |
OMIM:618298 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Micrognathia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Thin vermil... |
ORPHA:1046 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Enamel h... |
OMIM:612463 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Pierre-Robin sequence, Cleft ... |
OMIM:184840 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple pterygia, Micrognathia |
OMIM:601809 |
| Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormality of the dentition, Cryptorchidism, Wide nasa... |
ORPHA:2053 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Osteopenia, High, narrow palate, Thick lower lip vermilion, Wide mouth, Midface retrusion |
OMIM:617268 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge... |
ORPHA:2176 |
| Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum |
ORPHA:85335 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, K... |
OMIM:618162 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Cryptorchi... |
ORPHA:98905 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Ad... |
OMIM:615873 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... |
OMIM:611134 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palm... |
OMIM:272950 |
| Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Sandal gap, Arachnodactyly, Thick lower lip vermilion, Wide mouth, Shor... |
OMIM:616938 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Neonatal respiratory dist... |
OMIM:618622 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy... |
ORPHA:2879 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Irregular dentition, Wide mouth, Irregular epiphyses, Cervical myelopathy, Scolio... |
OMIM:619260 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Respiratory tract infection, Long fingers, Flexion contracture, 2-3 toe syndactyl... |
OMIM:218000 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Hyperlordosis, Calcaneovalgus deformity, Areflexia of lower limbs, A... |
OMIM:162370 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypoplasia, Ventriculomegaly, ... |
ORPHA:2643 |
| Man1B1-Cdg |
|
Smooth philtrum, Thin upper lip vermilion, Eclabion, Flat occiput, Frontal bossing, Short neck, 2... |
ORPHA:397941 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Hem... |
OMIM:224690 |
| Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla... |
OMIM:311900 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Short neck, Calcaneovalgus deformity, Neonatal death, Pter... |
OMIM:256520 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| 6Q25 Microdeletion Syndrome |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Cleft palate, High palate, Long philtr... |
ORPHA:251056 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, High, narrow palat... |
OMIM:612513 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Single transverse palmar crease, Kyphoscoli... |
OMIM:620075 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia |
OMIM:616733 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Osteopenia, Metaphyseal dysplasia, Frontal bossing, Micrognathia, Long nose, Short neck, Bilatera... |
OMIM:618336 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sacral dimple, High, narrow palate, Cryptorchidism, Wide mouth, Downturned corners of mouth, Tetr... |
OMIM:273390 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Long nose, ... |
ORPHA:2995 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Prominent fingertip pads, Wide mouth, High palate, Tapered finger |
OMIM:615722 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Equino... |
OMIM:609128 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont... |
ORPHA:2020 |
| Potocki-Lupski Syndrome |
|
Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palate, Scoliosis, Trigonoce... |
OMIM:610883 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Sho... |
OMIM:123450 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Genu valgum, Contracture of the distal interphalangeal j... |
OMIM:216800 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Short neck, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Slen... |
OMIM:613192 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Cryptorchidism,... |
OMIM:620025 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Non-... |
ORPHA:1908 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Genu valgum, Short philt... |
OMIM:619142 |
| Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palat... |
ORPHA:1784 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Crypto... |
OMIM:619194 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
| Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r... |
ORPHA:2097 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger, Ventriculomegaly |
OMIM:247990 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Bilateral cryptorchidism, Short palm |
OMIM:300982 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocat... |
ORPHA:536532 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del... |
OMIM:225410 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Ventriculomegaly, Bilateral single transverse palmar creases, Abnormali... |
ORPHA:502 |
| Peho Syndrome |
|
Ventriculomegaly, Palpebral edema, Tapered finger, Hydrocephalus, Flexion contracture, Limitation... |
ORPHA:2836 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Palmar pits, Narrow mo... |
ORPHA:77301 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Cryptorchidism... |
ORPHA:254346 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Abnormality of the lower limb, No... |
ORPHA:245 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Weakness of the intrinsic hand muscle... |
ORPHA:98913 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micromelia, Flexion contr... |
OMIM:610015 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum... |
ORPHA:487796 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5th finger, Bifid uvula |
ORPHA:254516 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Cryptorchidism, Wide nasal bridge, Wide mouth, Everted lower lip vermil... |
OMIM:619595 |
| Trisomy 9P |
|
Brachydactyly, Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Brach... |
ORPHA:236 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec... |
ORPHA:496641 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hydrocephalus, High palate, Prominent fingertip pads, Open mouth, Thick... |
OMIM:300558 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Protruding tongue, Intestinal... |
OMIM:300963 |
| Alazami Syndrome |
|
Wide mouth, Slender long bone, Thick vermilion border, Short philtrum, Widely spaced teeth, Scoli... |
ORPHA:319671 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decre... |
OMIM:618265 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, High palate, Recurrent aspiration pneumonia, Prominent pa... |
ORPHA:280633 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, ... |
OMIM:312870 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Camptodactyly of finger, Joint hypermobil... |
OMIM:619951 |
| Mosaic Trisomy 8 |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Patellar apla... |
ORPHA:96061 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Micrognathia, Cryptorchidism, Osteoporosis, Wide nasal bridge, T... |
OMIM:600118 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Short neck, Orofacial cleft, Webbed neck, Wide mouth, Long philtrum, Tr... |
OMIM:614583 |
| Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Frontal bossing, Camptodactyly of finger, Joint stiffness, Hype... |
ORPHA:354 |
| Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Brachycephaly, Widely-sp... |
OMIM:148050 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Plantar pits, Hemivertebrae, Parietal bossing, Vertebral fusion, Odontogenic keratoc... |
OMIM:109400 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydroceph... |
ORPHA:3412 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Micrognathia, Hyperlordosis, Narrow ... |
ORPHA:1323 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Respiratory distress, Postaxial po... |
OMIM:300968 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumst... |
OMIM:612938 |
| Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Short neck, Flexion contracture, Death in infancy, Neonatal respiratory distress, W... |
OMIM:618947 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Wide nasal bridge, Downturned corners of mouth, Wide mo... |
OMIM:618067 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Deep ... |
OMIM:619542 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol... |
OMIM:617604 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Ventriculomegaly, Single transverse palmar crease, Abnormal limb bone morphology, Downturned corn... |
ORPHA:251009 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprose... |
ORPHA:2117 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Prominent metopic ridge, Overlapping toe, Flat occiput, ... |
OMIM:613792 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necros... |
ORPHA:3342 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, 2-3 toe syndactyly,... |
ORPHA:485405 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
| Autosomal Recessive Amelia |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of the l... |
ORPHA:1027 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Pectus excavatum, S... |
OMIM:231050 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Short neck, Hemivertebrae, Brachycephaly, ... |
OMIM:213980 |
| Craniofrontonasal Syndrome |
|
Short neck, Brachycephaly, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Cleft uppe... |
OMIM:304110 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Mi... |
OMIM:618268 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptod... |
OMIM:246560 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thu... |
ORPHA:435638 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Ulnar bowing, Wid... |
OMIM:619135 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Frontal bossing, Tented upper lip vermilion, Dental crowding, Rocker bot... |
OMIM:612582 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Joint laxity, Thin upper lip vermilion, Frontal bossing, Micrognathia, Long fingers, Wi... |
ORPHA:363686 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
High palate, Short neck |
OMIM:618951 |
| Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... |
OMIM:258315 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tapered finger, Tooth malposition, Wide mouth, Thick vermilion border, Scoliosis, Camptodactyly, ... |
OMIM:619576 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of t... |
OMIM:616738 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios |
OMIM:615397 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus adductus, Short thumb, Hig... |
ORPHA:436003 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ... |
OMIM:618381 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Polyhydramnios, Coxa valga, Micrognathia, De... |
OMIM:619833 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Joint hyperflexibility, Hand polyda... |
ORPHA:60040 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, Kyphoscoliosis, Micrognathia, Short neck, Flexion contracture, Small hand, High palate, Sc... |
OMIM:300055 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Bilateral talipes equinovarus, Ventriculomegaly |
OMIM:616486 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... |
ORPHA:1765 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis, Scoliosis, Short neck |
OMIM:616033 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, Microdontia, Synostosis... |
ORPHA:3191 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Deviation of finger, Small hand, Short neck, Abnormality of the dentition |
ORPHA:2101 |
| Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Long toe, Tapered fing... |
OMIM:158170 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl... |
ORPHA:2563 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Cleft lip, Laryngotracheomala... |
ORPHA:1199 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Dee... |
OMIM:618571 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Cleft palate, Ulnar ... |
ORPHA:921 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Microgna... |
OMIM:613177 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Bresek Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Renal hypoplasi... |
ORPHA:85284 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta... |
OMIM:300990 |
| Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Micrognathia, Tapered finger, Short neck, Pectus excavatum, Wide nas... |
ORPHA:1438 |
| Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| 16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth,... |
ORPHA:261250 |
| Basilicata-Akhtar Syndrome |
|
Short palm, Tented upper lip vermilion, Single transverse palmar crease, Short neck, Dolichocepha... |
OMIM:301032 |
| Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Bila... |
ORPHA:1600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short neck, Pectus excavatum, Recurrent b... |
OMIM:617303 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Wide mouth, Respi... |
ORPHA:1194 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morphology, Open bite, Car... |
ORPHA:10 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Pde4D Haploinsufficiency Syndrome |
|
Thickened calvaria, Micrognathia, Short metatarsal, Brachycephaly, Irregular vertebral endplates,... |
ORPHA:439822 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Ne... |
OMIM:602471 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Brachycephaly, Genu valgum, Wide mouth, Posterior plagiocephaly, Joi... |
OMIM:617798 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Micrognathia, Cryptorch... |
OMIM:214150 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of ... |
OMIM:280000 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognat... |
ORPHA:83617 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo... |
OMIM:184250 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Hydrocephalus, Horseshoe kidney, High palate, Camptodactyly, H... |
OMIM:614846 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Dental crowdi... |
OMIM:615539 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Pelvic kidney, Anal a... |
OMIM:617244 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Apnea, Micrognathia, Proximal femoral metaphyseal i... |
ORPHA:397715 |
| Pelger-Huet Anomaly |
|
Frontal bossing, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival overgro... |
OMIM:169400 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Pu... |
OMIM:302960 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibular osteomyelitis, Cario... |
OMIM:259710 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal p... |
ORPHA:93271 |
| Lambert Syndrome |
|
Wide mouth, Talipes equinovarus |
OMIM:245550 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, High, narrow palate, Vertebral segmentation defect, Clino... |
ORPHA:373 |
| Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip,... |
OMIM:249000 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Distal Duplication 6P |
|
Frontal bossing, Sacral dimple, Short neck, Micrognathia, Abnormal lung lobation, Thin vermilion ... |
ORPHA:1745 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Short neck, Absent thumb, Hydrocephalus, Abnormal lung lobation, Bilateral radi... |
OMIM:300514 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxit... |
OMIM:613610 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Micrognathia, Abnormal foot morphology, Kyphosis, Cryptorchidism, Narro... |
ORPHA:352490 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous s... |
OMIM:600920 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
| Spastic Paraplegia 52, Autosomal Recessive |
|
Flexion contracture, Wide nasal bridge, Wide mouth, Thick vermilion border, High palate, Talipes ... |
OMIM:614067 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Osteoporosis, Cleft palate, Micropenis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Neonatal respiratory distress, Multiple prenatal fractures, Flexion contractur... |
OMIM:616866 |
| Loeys-Dietz Syndrome 6 |
|
Pes planus, Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Inte... |
OMIM:619656 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, De... |
ORPHA:404440 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Gm1-Gangliosidosis, Type Ii |
|
Ventriculomegaly, Coxa valga, Joint stiffness, Protruding tongue, Gingival overgrowth, Hypoplasti... |
OMIM:230600 |
| Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Cleft soft palate, Small hand, Low posterior hairline, ... |
OMIM:618779 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Micrognathia, Short neck, Downturned corners of mouth, Neonatal death, Hand cle... |
OMIM:616342 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short philtrum, Taper... |
OMIM:309590 |
| Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Downturned corners of mouth, Short philtrum, Bifid uvula... |
OMIM:601808 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
| Weaver Syndrome |
|
Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Calcaneovalgus deformity,... |
OMIM:277590 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
| Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
| Treacher-Collins Syndrome |
|
Micrognathia, Brachycephaly, Glossoptosis, High palate, Abnormality of bone mineral density, Ence... |
ORPHA:861 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Micropenis, Decreased testic... |
OMIM:614880 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... |
ORPHA:264450 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Upper airway obstruction, Patellar ... |
ORPHA:1827 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Neonatal death, Distal shortening of li... |
OMIM:146510 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Dec... |
ORPHA:2772 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Communicating hydrocephalus, Thickened ribs, Short neck, Brachycephaly, Cortical thic... |
ORPHA:309282 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... |
OMIM:119600 |
| Curry-Jones Syndrome |
|
Anal stenosis, Ventriculomegaly, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip... |
OMIM:601707 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
| Stickler Syndrome, Type Ii |
|
Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft pal... |
OMIM:604841 |
| Ring Chromosome 14 Syndrome |
|
Flat occiput, High palate, Dolichocephaly, Short neck |
OMIM:616606 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short long bone, Vertebral segmentation defect... |
OMIM:618845 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Cran... |
ORPHA:83 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... |
ORPHA:3078 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, High palate, Short philtru... |
OMIM:615433 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Ventriculomegaly, Histidinuria, Short middle phalanx... |
ORPHA:2158 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis,... |
OMIM:275210 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosi... |
OMIM:103580 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Gorlin Syndrome |
|
Vertebral fusion, Frontal bossing, Arachnodactyly, Palmar pits, Carious teeth, Cryptorchidism, Pl... |
ORPHA:377 |
| Trisomy 5P |
|
Hypoplasia of penis, Ventriculomegaly, Abnormal metacarpal morphology |
ORPHA:1742 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Down-sloping shoulders, Micrognathia, Open bite, Long neck, D... |
ORPHA:1974 |
| Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... |
ORPHA:449280 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Respiratory failure... |
OMIM:620278 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Re... |
OMIM:618005 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Single transverse palmar crease, Micrognathia, Abnormalit... |
ORPHA:1596 |
| Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Cryptorchidism, Broad fi... |
ORPHA:2896 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Hydrocephalus, High palate, Lambdoidal cranio... |
OMIM:616294 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sacral dimple, Frontal bossing, Sandal gap, Long fingers, Dyspnea, Limitati... |
ORPHA:261279 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... |
OMIM:618529 |
| Rapadilino Syndrome |
|
Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft palate, Aplasia/Hypop... |
OMIM:266280 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
| Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Redundant neck skin, Micrognathia, Short neck, Deep philtrum, ... |
OMIM:300855 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, A... |
ORPHA:2970 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Short... |
ORPHA:250989 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Apnea, Trigonocephaly, Flexion c... |
OMIM:617301 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl... |
OMIM:217980 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Short neck, Bilateral cryptorchidism, Brachycephaly, Lumbar hemivertebrae, Talipes ... |
OMIM:619859 |
| Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology |
ORPHA:97230 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Tented upper lip vermilion, Exaggerated cupid's bow, Gingival overgrowth, Macroglossia... |
OMIM:616900 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Thin bony cortex, Enlargement of the ankles, Wide cra... |
ORPHA:289157 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep philtrum, High palate, ... |
ORPHA:261120 |
| Down Syndrome |
|
Joint laxity, Thickened nuchal skin fold, Brachydactyly, Sandal gap, Protruding tongue, Abnormali... |
ORPHA:870 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Polyhydramnios, Aplasia/Hypoplasi... |
ORPHA:2256 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnormal shoulder mor... |
ORPHA:1150 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Joubert Syndrome 37 |
|
Frontal bossing, Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchi... |
OMIM:619185 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Ventriculomegaly, Aganglionic megacolon, Esophageal atresia... |
ORPHA:59315 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... |
OMIM:300106 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi... |
ORPHA:2789 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc... |
ORPHA:2780 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft |
ORPHA:324416 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventriculomegaly, Th... |
OMIM:220500 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure |
ORPHA:168486 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Frontal bossing, Micrognathia, Short neck, Cryptorchidism, Short toe, Flexion contracture, Wide n... |
ORPHA:98791 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of mouth, Short... |
OMIM:619950 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:610759 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Death in infancy, Redundant neck skin, Flat... |
OMIM:235255 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Abnormal sacrum morphology, Hydrocephalus, Brachycephaly, Abnormal... |
ORPHA:93262 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Nemaline Myopathy 2 |
|
Calf muscle pseudohypertrophy, Apnea, Talipes, Thenar muscle atrophy, Hyperlordosis, Spinal rigid... |
OMIM:256030 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Thickened nuchal skin fold, Brachydactyly, Camptodactyly of finger, Micrognathia, Short neck, Cry... |
ORPHA:2083 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High palate, Long philtrum, Vertebral fusion, Cryptorc... |
OMIM:130720 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Syndactyly, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Pes planus, Thin upper lip vermilion, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Sm... |
OMIM:617755 |
| Arthrogryposis, Distal, Type 2E |
|
Foot joint contracture, Micrognathia, Distal arthrogryposis, Talipes equinovarus, Narrow mouth, J... |
OMIM:121070 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
| Fetal Hydantoin Syndrome |
|
Thickened nuchal skin fold, Cryptorchidism, Cleft palate, Low posterior hairline, Wide mouth, Eve... |
ORPHA:1912 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism, D... |
OMIM:242900 |
| Ssr4-Cdg |
|
Joint dislocation, Abnormality of upper lip vermillion, Wide mouth, Widely spaced teeth, Scoliosis |
ORPHA:370927 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet... |
OMIM:102500 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Abnormality of the dentition, Pectus excavatum, Cryptorchidism, Broad palm, Wide mout... |
OMIM:618505 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Single tran... |
OMIM:300998 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Hydroce... |
OMIM:612284 |
| Hartnup Disorder |
|
Glossitis, Neutral hyperaminoaciduria |
OMIM:234500 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Ventriculomegaly, Intestinal malrotation, Single transverse... |
OMIM:614701 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... |
OMIM:194350 |
| Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Webbed neck, Long hallux, Broad hallux phalanx... |
ORPHA:2308 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short neck, Deep philtrum, Recurrent pneumonia, Asthma, High palate, Scoliosis, Cubitus valgus |
OMIM:619750 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormality of the dentition, Abnormal thumb morpholog... |
ORPHA:94065 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Respiratory failure requiring assisted ventilation, Short neck, Flexion contracture, High palate,... |
OMIM:619026 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Bilateral talipes equinovarus, Wide nasal bridge |
OMIM:616521 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of ... |
OMIM:610442 |
| Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p... |
ORPHA:3310 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Midface retrusion, Short neck, Kyphosis, Cone-shaped epiphys... |
ORPHA:420794 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,... |
OMIM:181180 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Frontal bossing, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal femor... |
ORPHA:3218 |
| Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Webbed neck, Low p... |
ORPHA:85194 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Fe... |
OMIM:274000 |
| Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Clinodactyly, High palate, Short hallux, Tapered fin... |
OMIM:608156 |
| Cooper-Jabs Syndrome |
|
Frontal bossing, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib... |
ORPHA:1488 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Pect... |
ORPHA:261236 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Limb joint contracture, Craniosynostosis, Ankle flexion contracture, ... |
ORPHA:284417 |
| Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hydronephrosis |
ORPHA:85173 |
| Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Thick lower lip vermilion, Wide nasal brid... |
OMIM:614609 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border |
ORPHA:1532 |
| Galloway-Mowat Syndrome 6 |
|
Wide mouth, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Microdontia |
OMIM:618347 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Tubulointerstit... |
ORPHA:459061 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob... |
ORPHA:314621 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Short neck, Pec... |
ORPHA:488632 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Cryptorchidism, Increased nuchal translucency, Wide mouth, Scoliosis, Widely-spaced... |
OMIM:617635 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Micrognathia, Cleft palate, Hydrocele testis, Deep plantar creases, Thin vermili... |
OMIM:614080 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Everted lower lip vermili... |
OMIM:608013 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Long nose, Pierre-Robin... |
OMIM:619184 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Prominent fingertip pads, High palate, Clinodactyly of the 5th finger, Ventriculomegaly |
OMIM:615637 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, H... |
OMIM:259700 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Short neck, Brachycephaly, Broad neck |
OMIM:615031 |
| Noonan Syndrome 5 |
|
Short neck, Dolichocephaly, Cryptorchidism, Wide mouth, Thick vermilion border, Webbed neck, Cubi... |
OMIM:611553 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Recu... |
OMIM:616268 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Brachycep... |
ORPHA:3103 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis |
OMIM:616629 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Abnormality of the dentit... |
ORPHA:776 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Death in childhood, Camptodactyly |
OMIM:604273 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... |
ORPHA:1001 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Single transverse palmar... |
OMIM:618348 |
| Joubert Syndrome 7 |
|
Central apnea, Encephalocele, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty... |
OMIM:611560 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Osteopenia, Pes planus, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Cryp... |
ORPHA:75496 |
| Trisomy 12P |
|
Thickened nuchal skin fold, Turricephaly, Micrognathia, Short neck, Wide nasal bridge, Cleft pala... |
ORPHA:1699 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Facial edema, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger,... |
ORPHA:221016 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Limited neck range of motion, ... |
OMIM:214300 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... |
ORPHA:1406 |
| 49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Abnormality of the t... |
ORPHA:99330 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
| Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Micrognathia, Crypto... |
OMIM:164745 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Missing ribs, Micrognathia, Hydrocephalus, Cleft palate, Dandy-Walker ma... |
OMIM:220210 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Abnormal e... |
ORPHA:250984 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism, Ventriculomegaly, Long philtrum |
OMIM:618286 |
| Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, High palate, Long philtrum,... |
ORPHA:261112 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, ... |
OMIM:300373 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, Cryptorchidism, Thick lower... |
OMIM:179613 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp... |
OMIM:235510 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Short foot, Wide mouth, Median pseudocleft lip, Clinodactyly of... |
OMIM:619758 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Wide nasal bridge, Symphalangism affecting the phalanges of the hand, Brachyceph... |
ORPHA:1292 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Macrodontia, Abnor... |
ORPHA:2916 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pes planus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu re... |
ORPHA:230851 |
| Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Femoral bowing, Stillbirth, Pulmonary hypoplasia, Talipes equinovarus |
OMIM:615415 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Micrognathia, Tapered finger, Protruding tongue, Wi... |
OMIM:618580 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Wide anterior fonta... |
OMIM:619736 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Proximal placement of thumb, Micrognathia, Tapered finger, Shor... |
ORPHA:251071 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Pectus excavatum, Thoracic scoliosis, Bilateral cleft lip, Short neck |
OMIM:616994 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Cryptorchidism, Recurrent pneumonia, Plagiocephaly, Short 5th finger, Scoliosis, Ac... |
ORPHA:500159 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slende... |
OMIM:612731 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Wide mouth, Joint hyperflexibility, Sandal gap, Scoliosis |
ORPHA:2715 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Pulmonary artery stenosis, Downturned corners of mouth, Wide mouth, Short middle p... |
OMIM:301030 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Micrognathia, High palate, Neonatal death, Scapular winging,... |
OMIM:620351 |
| Scarf Syndrome |
|
Barrel-shaped chest, Thickened nuchal skin fold, Short neck, Cryptorchidism, Wide nasal bridge, A... |
OMIM:312830 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Pectus excavatum, Wide nasal bridge, Shorte... |
ORPHA:247262 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Short neck, Cryptorchidism, ... |
ORPHA:495818 |
| Coffin-Siris Syndrome |
|
Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower li... |
ORPHA:1465 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl... |
OMIM:157980 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
| Mehmo Syndrome |
|
Cleft lip, Cleft palate, Micropenis, Widely spaced teeth, Long philtrum, Open mouth, Ventriculome... |
OMIM:300148 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Tooth abscess |
ORPHA:89937 |
| Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Ectopic kidney, Clinodactyly of the 5th finger, Microdontia, Microglossia |
OMIM:606744 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bon... |
ORPHA:2512 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Cryptorchidism, Gingival overgrowth, Patellar hypoplasia, Th... |
ORPHA:464288 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Joint hyperflexibility, Ventriculomegaly, Abnormal palate morphology |
ORPHA:1188 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, High palate, Abnormality o... |
ORPHA:2953 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... |
OMIM:618729 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
| 20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Narrow mouth, Broad thumb, Ventriculomegaly, Long philtrum |
ORPHA:261295 |
| Scarf Syndrome |
|
Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Webbed neck,... |
ORPHA:3134 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... |
OMIM:135900 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Redundant neck skin, Overlapping toe, Single transverse palmar crease, Ex... |
ORPHA:254528 |
| Emanuel Syndrome |
|
Ventriculomegaly, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed er... |
OMIM:609029 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
| Hernández-Aguirre Negrete Syndrome |
|
Wide mouth, Deep philtrum |
ORPHA:2139 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Micromelia, Wide nasal bridge, Coxa vara, Narrow pelvis bone, J... |
ORPHA:2637 |
| Alg1-Cdg |
|
Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... |
ORPHA:464738 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Dental malocc... |
OMIM:610733 |
| Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Brachycephaly, Webbed neck, Abnormal pulmonary vein morphol... |
ORPHA:709 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cl... |
ORPHA:87 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb, Long philtrum, Sh... |
ORPHA:50810 |
| Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Dolichocephaly, Gingival over... |
OMIM:135500 |
| Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Spatulate ribs, Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia,... |
ORPHA:79255 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Wide mouth, High palate, Talipes equinovarus, Short philtrum, Adducted thumb |
OMIM:612936 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Single transverse palmar crease, Micrognath... |
OMIM:619841 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Tapered finger, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral renal agenesis, Cryptorchi... |
OMIM:101800 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyl... |
ORPHA:397590 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Broad neck, Overlapping toe, Lower extremity joint dislocation,... |
ORPHA:163956 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Flat occiput, Trigonocephaly, Micrognathia, Missing ribs, Short... |
OMIM:147791 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, High, narrow palate, Clinodactyly of the 5th finger, Bifid uv... |
ORPHA:2554 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Tibial bowing, Congenital b... |
ORPHA:453510 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... |
ORPHA:233 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Micrognathia, Metaphyse... |
OMIM:156400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
| Dpm1-Cdg |
|
Ventriculomegaly, Tented upper lip vermilion, Sandal gap, Micrognathia, High, narrow palate, Knee... |
ORPHA:79322 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Midface retrusion, Micrognathia |
OMIM:617228 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, L... |
ORPHA:1942 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Downturned corners of mouth, Thick vermilion border, Clinodactyly of the 5th fin... |
OMIM:618974 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Frontal bossing, Single trans... |
OMIM:247200 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Webbed neck, Spina bifid... |
ORPHA:488434 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus |
ORPHA:1861 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Cryptorchidism, Small hand, Cleft palate, Short foot, High palate, Short philtrum, ... |
ORPHA:96184 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil... |
ORPHA:251038 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Polyhydramnios, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Joi... |
OMIM:225790 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Abnormal mito... |
ORPHA:17 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Smooth philtrum, Ventriculomegaly, Single transverse palmar crease, Tapered finger, Protruding to... |
OMIM:617804 |
| Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Bi... |
ORPHA:3305 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Polyhydramnios, Proximal placement of thumb, Anteriorly placed anus, Ventriculo... |
OMIM:618624 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Carious teeth, Long nose... |
ORPHA:2769 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Shortening of all distal phalanges o... |
OMIM:614207 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... |
ORPHA:3003 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef... |
OMIM:239300 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Radial club hand, Cleft... |
ORPHA:2165 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Smooth philtrum, Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Narrow mo... |
OMIM:617360 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han... |
ORPHA:887 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Alazami-Yuan Syndrome |
|
Thin upper lip vermilion, Dental crowding, Broad hallux, Single transverse palmar crease, Cryptor... |
OMIM:617126 |
| Luo-Schoch-Yamamoto Syndrome |
|
Small hand, Short foot, Widely-spaced maxillary central incisors, Wide mouth, Thick vermilion bor... |
OMIM:619460 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, High palate, Brachydactyly |
ORPHA:2180 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Short neck, Abnormal soft p... |
ORPHA:884 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Single transverse palmar crease, Tapered finger, Wide mouth, Widely spa... |
OMIM:616212 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Abnormal fi... |
ORPHA:314585 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Hydrocephalus |
OMIM:236660 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Flexion contracture, Hip dislocation, Micropenis, Macroglossia, Open mouth, Ventr... |
OMIM:613156 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, 2-3 toe cutaneous syndactyly, Short nose, Cryp... |
OMIM:618454 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidity, Respiratory insu... |
ORPHA:352447 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporo... |
ORPHA:447980 |
| Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion borde... |
ORPHA:370930 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Irregular dentition, Osteoporosis, Pulmonary lymphangiectasia, Narrow mouth, Camptoda... |
OMIM:616006 |
| Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, 2-3 toe syndactyly, Azoospermia, Large hands, Thick vermili... |
ORPHA:1446 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... |
OMIM:617967 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m... |
OMIM:310200 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
| Holoprosencephaly |
|
Flat occiput, Short neck, Deep philtrum, Abnormal form of the vertebral bodies, Holoprosencephaly... |
ORPHA:2162 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Increased skull ossification, Craniofacial osteoscl... |
OMIM:618476 |
| Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ... |
ORPHA:171433 |
| Schuurs-Hoeijmakers Syndrome |
|
Pes planus, Thin upper lip vermilion, Diastema, Cryptorchidism, Downturned corners of mouth, Wide... |
OMIM:615009 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Noncommunicating hydro... |
OMIM:619320 |
| Pettigrew Syndrome |
|
Thickened calvaria, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Wide mouth, Thick ve... |
OMIM:304340 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| 5Q14.3 Microdeletion Syndrome |
|
Open mouth, Toe syndactyly, Short philtrum, Ventriculomegaly |
ORPHA:228384 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Silver-Russell Syndrome |
|
Sandal gap, Dental crowding, Micrognathia, Lower limb asymmetry, Cryptorchidism, Upper limb asymm... |
ORPHA:813 |
| Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... |
OMIM:136140 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f... |
OMIM:201170 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Scheie Syndrome |
|
Spondylolisthesis, Pes cavus, Short neck, Genu valgum |
OMIM:607016 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sandal gap, Rhizomelia, Postaxial polydactyly, Sagittal craniosyno... |
OMIM:614099 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Brachycephaly... |
OMIM:610968 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi... |
ORPHA:60015 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Polyhydramnios, Spina bifida, Hydrocephalus, Absen... |
ORPHA:63259 |
| Cohen Syndrome |
|
Micrognathia, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndact... |
ORPHA:193 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Delayed eruption of teet... |
ORPHA:2909 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
| Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Single t... |
OMIM:210600 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Wide anterior fontanel, ... |
ORPHA:313781 |
| Braddock-Carey Syndrome 2 |
|
Wide mouth, Clinodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Short neck, Short thum... |
OMIM:244300 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Dandy-Wal... |
OMIM:220220 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Craniosynostosis, Wide mouth, Widely spaced teeth, Joint hypermobility |
OMIM:619056 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Nephrolithiasis, Hypercalciuria, Reduced bon... |
ORPHA:157215 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Micrognathia, Diastema, Cryptorchidism, Hydrocephalus, High palate, Sh... |
OMIM:609757 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... |
OMIM:305620 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb |
ORPHA:275543 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Frontal bossing, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Gingiva... |
OMIM:230500 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Communicating hydrocephalus, Recurrent fractures, Micrognathia, Hydrocephalus, Reduce... |
OMIM:112240 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cy... |
OMIM:263630 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, High pala... |
ORPHA:96170 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemic ri... |
OMIM:193100 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... |
OMIM:601349 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ... |
OMIM:117650 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Craniosynostosis, Postaxial hand polydact... |
OMIM:605627 |
| Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Short neck... |
ORPHA:98863 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Abnormality of the wrist... |
ORPHA:95699 |
| Malan Syndrome |
|
Coxa valga, Pectus excavatum, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Sco... |
OMIM:614753 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Hyperostosis,... |
ORPHA:73230 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig... |
OMIM:115150 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Low posterior hairline, Azoospermia, Vertebral segmentation ... |
ORPHA:2578 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Death in infancy, Toe syndactyly, Dental crowding, Cleft upper ... |
ORPHA:2052 |
| 2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, ... |
ORPHA:261349 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Craniosynostosis, Aplasia/Hypoplasia involving bones of the s... |
ORPHA:1521 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Downturned corners of... |
ORPHA:199 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Polyhydramnios, Spina... |
OMIM:616038 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Polyhydramnios, Hydrocephalus, Renal corticomedullary... |
OMIM:219730 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip d... |
OMIM:611961 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Clinodactyly of the 5th fing... |
ORPHA:2031 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short neck, Dental malocclusion, Brachydactyly |
ORPHA:436245 |
| Noonan Syndrome 7 |
|
Short neck, Pectus excavatum, Dolichocephaly, Low posterior hairline, Deep palmar crease, Thick v... |
OMIM:613706 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Hydrocephalus, Cranial hyperostosis, Flared metaphy... |
OMIM:259720 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morpholog... |
ORPHA:2710 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Ectopic kidney, Absent radius, Sh... |
OMIM:192350 |
| Schisis Association |
|
Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... |
ORPHA:63862 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Cryptorchidi... |
OMIM:219150 |
| Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Redundant neck skin, Micrognathia, Short neck, Cryptorchidis... |
OMIM:146390 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Thin upper lip vermilion, Micrognathia, Diastema, Cryptorchidism, Flex... |
OMIM:300534 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... |
OMIM:614900 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis, Tooth agenesis, Ectrodacty... |
OMIM:147950 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short ... |
OMIM:241410 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus, Flexion contracture |
OMIM:613155 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Low posterior... |
OMIM:118100 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Minimal change glomerulon... |
OMIM:616730 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans... |
OMIM:180849 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Butterfly vertebral arch, Micrognathia, Long nose, Crypt... |
ORPHA:52 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Hydrocephalus, High palate, Lon... |
OMIM:612940 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Lymphedema, Cryptorchidism, Hydrocephalus, Submucous cleft hard pala... |
ORPHA:1340 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Polyhydramnios, Thick lower lip vermilion, Wide mouth, Nephrocalcinosis, Open mouth... |
OMIM:611087 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentition, Abnor... |
ORPHA:3224 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... |
OMIM:615996 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... |
OMIM:614424 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Flexion contracture, Abnormal medullary pyramid morphology, Incr... |
ORPHA:79243 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Wide nasal bridge, Apneic episodes precipitated by illness, fatigue, stress, Res... |
OMIM:312170 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow p... |
ORPHA:313892 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Hyperlordosis, Atelectasis, Flexion contracture, Aspiration, ... |
ORPHA:258 |
| Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Large joint dislocations, Cryptorchidism, Accessory carpal b... |
ORPHA:503 |
| Legius Syndrome |
|
Short neck, Pectus excavatum, High, narrow palate, Micrognathia, Low posterior hairline, High palate |
OMIM:611431 |
| Cerebellofaciodental Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Cryptorchidism, Dental m... |
OMIM:616202 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Tented ... |
OMIM:601803 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Ventriculomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip ve... |
OMIM:618342 |
| Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Reduced bone mineral density, Dandy-Walker malformation, Ventri... |
ORPHA:2611 |
| X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Tapered finger, Short neck, Osteoporosis,... |
ORPHA:96201 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Bowing of the legs, Rickets, Aminoaciduria, Glycosuria, Low-molecular-weight p... |
OMIM:615605 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Delayed eruption of teeth, Abn... |
ORPHA:221008 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ... |
ORPHA:3455 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Hydrocephalus, Reduced bone mineral density, High palate, Abnormal hip bone morph... |
ORPHA:2720 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Br... |
OMIM:614800 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Cryptorchidis... |
ORPHA:1812 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Unilateral renal agenesis, Hydrocephalus, Esophageal varix, Hip dysplasia,... |
OMIM:614576 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard pa... |
OMIM:612863 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Hip dislocation, Spinal canal stenosis, Genu valgum, Scoliosis, Narrow m... |
ORPHA:436174 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Talipes equinovarus, Hammertoe, Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... |
OMIM:225060 |
| De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip disloca... |
ORPHA:2962 |
| Harrod Syndrome |
|
Arachnodactyly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morph... |
ORPHA:2115 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Knee flexion contracture, Anteriorly place... |
OMIM:151050 |
| C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, Short neck, High palate, Biparietal narrowing, Clino... |
ORPHA:1308 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Hydrocephalus, Lateral ventricle dilatation, Absen... |
OMIM:614219 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... |
ORPHA:79107 |
| Malan Overgrowth Syndrome |
|
Frontal bossing, Pectus excavatum, Scaphocephaly, Low posterior hairline, Plagiocephaly, Slender ... |
ORPHA:420179 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Single transverse palmar crease, Narrow mouth, Cryptorchidism, Cleft palate, Th... |
OMIM:615502 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Short ... |
OMIM:618089 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Single transverse palmar crease, Craniosynostosis, Delayed eruption of p... |
ORPHA:2409 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly, Narrow mouth |
OMIM:245552 |
| Distal Deletion 9P |
|
Abnormality of the dentition, Short neck, High, narrow palate, Wide nasal bridge, Cleft palate, T... |
ORPHA:1642 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, High p... |
ORPHA:169186 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod... |
ORPHA:210548 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, Increased vertebral height, ... |
OMIM:616817 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly, Cle... |
OMIM:616449 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Thin upper lip vermilion, Recurrent respiratory infections, Single transverse palmar ... |
ORPHA:466950 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow ... |
OMIM:218040 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, Tapered finger, Hip... |
OMIM:617807 |
| X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Scoliosis, Hyporeflexia of upper li... |
ORPHA:93952 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Enamel h... |
OMIM:612462 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Downturned corners of mouth, Short philtrum, Emphysema, ... |
ORPHA:500150 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine... |
OMIM:605039 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Metatarsus adductus, Cr... |
OMIM:182212 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... |
ORPHA:2457 |
| Alg8-Cdg |
|
Edema, Hydrops fetalis, Oligohydramnios, Macroglossia, Talipes equinovarus, Camptodactyly, Ascite... |
ORPHA:79325 |
| Degcags Syndrome |
|
Osteopenia, Micrognathia, High palate, Syndactyly, Short thumb, Cryptorchidism, Thick vermilion b... |
OMIM:619488 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
| Desmosterolosis |
|
Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu... |
ORPHA:35107 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Cleft upper lip, Pectus excavatum, Wide nasal bridge, Cleft palate, Brachycepha... |
OMIM:201180 |
| Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Micropenis, High palate, Long phi... |
OMIM:300215 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness |
OMIM:158900 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Hypospadias, Flexion contra... |
OMIM:619479 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor... |
OMIM:604320 |
| Restrictive Dermopathy |
|
Osteopenia, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple joint contractures, Thorac... |
ORPHA:1662 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Narrow mouth, A... |
ORPHA:1529 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Rib fusion, Wide nasal bridge, Cone-shaped epiphysis, Short foot... |
OMIM:157800 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint hypermobility, Joint stiffness, Cleft palate, Reduced bone mineral density, Ventriculomegaly |
OMIM:620210 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1133 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Micrognathia, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral co... |
OMIM:611182 |
| Congenital Sialidosis Type 2 |
|
Edema, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Ascites |
ORPHA:93400 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Ventric... |
OMIM:617784 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
| Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Scol... |
OMIM:613795 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teet... |
ORPHA:98794 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Single transverse palmar crease, Micrognathia, Tapered finger, Short neck... |
ORPHA:444072 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, High palate, Respiratory insufficiency |
OMIM:615330 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Thin upper lip vermilion, Frontal bossing, Scaphocephaly, Wide mouth, Smooth philtrum |
OMIM:619989 |
| Kagami-Ogata Syndrome |
|
Pursed lips, Respiratory failure requiring assisted ventilation, Frontal bossing, Kyphoscoliosis,... |
ORPHA:254519 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Finger syndactyly, Hypoplasia of th... |
ORPHA:959 |
| Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Apla... |
ORPHA:564 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Pierre-Robin sequence, Small hand, Cl... |
OMIM:619980 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Joint laxity, Tented upper lip vermilion, Polyhydramnios, Nephrocalcinosis, Wide mouth, Open mout... |
ORPHA:500533 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Thin upper lip vermilion, Sacral dimple, Flat occiput, Short neck,... |
OMIM:300966 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Cryptorchidism, Talipes equinovarus, Long philtrum, Neonatal death,... |
OMIM:608104 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Abnormali... |
OMIM:239800 |
| Marfan Syndrome |
|
Genu recurvatum, Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, Narrow fo... |
OMIM:154700 |
| Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... |
OMIM:608836 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Short neck, Brachycephaly, Downturned corners of mouth, Midface retrusion |
OMIM:616708 |
| Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Kyphosis, Thick lower lip vermilion, Hypoplastic ... |
OMIM:208400 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Joint... |
OMIM:602196 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... |
OMIM:620183 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Talipes calcaneovalgus, Widely-spaced maxil... |
OMIM:309580 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... |
ORPHA:2804 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Wide mouth, Abnormality of mouth shape |
ORPHA:83619 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, Death in i... |
ORPHA:534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Joint laxity, Frontal bossing, Dental crowding, Kyphoscoliosis, High, ... |
OMIM:300967 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency, Widely patent fontanelles and sutures |
OMIM:267430 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Recurrent fractures, Avascular necrosis ... |
OMIM:619377 |
| Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar deviation of fing... |
ORPHA:949 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Overlapping toe, Hypospadias, Unilateral renal agenesis, Abnormality of the den... |
ORPHA:363444 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Frontal bossing, Short neck, Pectus excavatum, Cryptorchidism, Deep philtrum, Webbe... |
OMIM:613563 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Knee flexion... |
OMIM:603387 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial... |
OMIM:617527 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, 2-3 toe syndactyly, Downturned corners of ... |
OMIM:619121 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of... |
ORPHA:284160 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Central apnea, Lumbar hyperlordosis, Progressive flexion ... |
ORPHA:522077 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Aganglionic megacolon, Cleft palate, Ventriculomegaly |
ORPHA:66629 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Transaldolase Deficiency |
|
Short neck, Wide anterior fontanel, Deep philtrum, Asthma, Wide mouth, Thin vermilion border, Sho... |
OMIM:606003 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Ventriculomegaly, Abnormality of the dentition, Velopharyngeal insuf... |
OMIM:182290 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Short neck, Tapered finger, Small hand, Short clavicles |
ORPHA:401923 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Ventriculomegaly, Tented upper lip vermilion, Edema of t... |
ORPHA:521426 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchid... |
OMIM:606170 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
| Renal Agenesis, Bilateral |
|
Abnormal sacrum morphology, Non-midline cleft lip, Cleft palate, Sirenomelia, Pulmonary hypoplasia |
ORPHA:1848 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
| Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Pyloric stenosis, Hydrocephalus, Open mouth, Ventriculomegaly |
OMIM:616355 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Ventriculomegaly |
ORPHA:85179 |
| Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Chronic kidney disease, Osteoporosis, Short long ... |
OMIM:602152 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth, Sc... |
OMIM:105830 |
| White-Sutton Syndrome |
|
Joint laxity, Micrognathia, Short neck, Brachycephaly, Hypoplastic cervical vertebrae, Cleft pala... |
OMIM:616364 |
| Tetrasomy 18P |
|
Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Midface retrusion, Joint stiffness, Narrow mouth, Crypt... |
ORPHA:2588 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Microphthalmia, Syndromic 9 |
|
Micrognathia, Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Wide n... |
OMIM:601186 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Narr... |
OMIM:618443 |
| Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin... |
OMIM:218340 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia, Abnormality of the elbow, Joint hyperflexibility, Abnormality of the neck |
ORPHA:2220 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short f... |
OMIM:607597 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Brachycephaly, Hypoplasia of the primary teeth, 4-5 fin... |
OMIM:257850 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Rhizomelia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Dol... |
OMIM:614114 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Micrognathia, Short neck, Flexion contracture, Elbow flexion c... |
OMIM:300868 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Wide mouth, Long philtrum, Shor... |
OMIM:103050 |
| Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Hydrocephalus, Alveolar ridge overgrowth, C... |
OMIM:602398 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Irregular dentition, Anal stenosis, Hypospadias, Micrognathia, Lymphedema... |
ORPHA:314679 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
| Branchioskeletogenital Syndrome |
|
Short neck, Upper limb peromelia, Brachycephaly, Downturned corners of mouth, Short philtrum, Pre... |
ORPHA:1299 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Cryptorchidism, ... |
OMIM:614230 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
| Wildervanck Syndrome |
|
Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Webbed neck |
ORPHA:3456 |
| Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft palate, Finger clinoda... |
ORPHA:391474 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Ventriculomegaly,... |
OMIM:614749 |
| Turnpenny-Fry Syndrome |
|
Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturned corners of mouth, Hi... |
OMIM:618371 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Delayed cranial suture closure, Micrognathia, Narrow m... |
OMIM:608612 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger, Ventriculomegaly, Micrognathia |
ORPHA:48431 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Flat occiput, Micrognathia, Short neck, Cryptorchi... |
ORPHA:1655 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Renpenning Syndrome |
|
Macrodontia, Joint stiffness, Abnormal thumb morphology, High, narrow palate, Pectus excavatum, A... |
ORPHA:3242 |
| 3-Hydroxyisobutyric Aciduria |
|
Micrognathia, Ventriculomegaly, Long philtrum |
ORPHA:939 |
| Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteoscler... |
ORPHA:2323 |
| Leopard Syndrome 2 |
|
Dolichocephaly, Short neck, Thick lower lip vermilion, Webbed neck, Cubitus valgus |
OMIM:611554 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial... |
ORPHA:220497 |
| Fetal Akinesia Deformation Sequence 3 |
|
Talipes, Rocker bottom foot, Short neck, Micrognathia, Overlapping fingers |
OMIM:618389 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Thick vermilion border, Ventriculomegaly |
OMIM:617090 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... |
ORPHA:365 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
| 8Q12 Microduplication Syndrome |
|
Narrow mouth, Wide nasal bridge, Brachycephaly, Short foot, Everted lower lip vermilion, Long phi... |
ORPHA:228399 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Bilateral ... |
ORPHA:488642 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, Hydrocephalus, H... |
ORPHA:238769 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Barrel-shaped chest, Lumbar hyperlordosis... |
ORPHA:505248 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Pulmonary hypoplasia, Scoliosis, Camptodactyly... |
ORPHA:86309 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Joint stiffness, Hydrocephalus, Mucopolysacchariduria, Broad thumb, Smooth ... |
ORPHA:585 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
| Beck-Fahrner Syndrome |
|
Ventriculomegaly, Hip dysplasia, Extra-axial cerebrospinal fluid accumulation, High palate, Long ... |
OMIM:618798 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Arachnodactyly, Abnormal dental enamel morphology, Hyposp... |
ORPHA:96169 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Hamartoma of tongue, Micrognathia, Macroglossia, High pa... |
OMIM:619775 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagiocephaly, Holopro... |
ORPHA:2163 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Long ... |
OMIM:615349 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger... |
OMIM:612394 |
| Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Hydrops ... |
ORPHA:268249 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, Hyd... |
OMIM:264480 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Congenital foot contractures, Ankle clonus, Scoliosis, Prominent calcaneus, Open ... |
ORPHA:565624 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Ventriculomegaly, Single transverse palmar crease, Micrognathia, High p... |
OMIM:619188 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Tapered finger, Short 3rd toe, Joint hyperflexibility, Short 4th toe, Ventriculomegaly |
OMIM:618707 |
| 17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Micrognathia, Short neck, Tooth malposition, Upper limb undergrowth, Wi... |
ORPHA:529962 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Frontal bossing, Congenital hip dislocation, Carious teeth, Wide anterior fontanel, H... |
OMIM:219200 |
| Glass Syndrome |
|
Smooth philtrum, Frontal bossing, Arachnodactyly, Anterior tibial bowing, Dental crowding, Microg... |
OMIM:612313 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Wide nasal ... |
OMIM:615803 |
| Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Pectus excavatum, Hypoxemia, Pulmonary hypoplasia, Pulmonary seque... |
ORPHA:2847 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Short metatarsal, Oligodontia, High palate, Short palm, Clinodacty... |
OMIM:170390 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Flexion contracture, Wide nasal bridge, Cleft palate... |
OMIM:619124 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Short foot, Hip dysplasia, Short neck, Abnormality of the dentition |
OMIM:601427 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Broad neck, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Pectus excavatum, Recu... |
OMIM:300472 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma... |
ORPHA:1830 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent... |
ORPHA:974 |
| Fraser Syndrome 3 |
|
Hypoplasia of penis, Nonimmune hydrops fetalis, Micrognathia, Short toe, Hydrocephalus, Cutaneous... |
OMIM:617667 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephal... |
OMIM:618797 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Pes planus, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity |
OMIM:225320 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... |
ORPHA:2322 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High p... |
OMIM:617140 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Micrognathia, Cryptorchidism, Flexion contracture, Pierre-Robin sequence, Cleft p... |
OMIM:254940 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hemolytic-uremic syndrome, Hydrocephalus, Osteoporosis, Clinodactyly, Ventriculomegaly |
ORPHA:2169 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pectus excavatum, Tachypnea, Rickets, Abnormal pulmonary interstitial m... |
OMIM:613658 |
| Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Talipes equinovarus |
OMIM:191830 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palate, Short philtrum,... |
OMIM:617746 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Polyhydramnio... |
OMIM:301056 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Recurrent respiratory infections, Tented upper lip vermilion, Cryptorchidism, 2-3 toe cutaneous s... |
OMIM:300260 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... |
ORPHA:794 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Hypospadias, Single transverse palmar crease, Persistence of primary teeth, Protrudi... |
OMIM:610253 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft palate, Finger joint hypermobil... |
OMIM:244200 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Short neck, Long fingers, Pectus excavatum, Brachycephaly, Cleft palate, High palat... |
OMIM:156610 |
| Mucopolysaccharidosis Type 1 |
|
Joint stiffness, Malabsorption, Hydrocephalus, Split hand, Thick lower lip vermilion, Gingival ov... |
ORPHA:579 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Brachycephaly, Abnormal periodontiu... |
ORPHA:480880 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Or... |
ORPHA:1297 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary teeth, Joint stiffness, C... |
ORPHA:819 |
| Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the neck, Vertebr... |
ORPHA:904 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Micrognathia, Protruding tongue, Short neck, Neonatal asphyxia, Respiratory ins... |
OMIM:608779 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Costello Syndrome |
|
Thickened nuchal skin fold, Abnormal dental enamel morphology, Abnormality of the dentition, Shor... |
ORPHA:3071 |
| Neuralgic Amyotrophy |
|
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
| Deeah Syndrome |
|
Death in infancy, Cervical hemivertebrae, Neonatal respiratory distress, Short neck, Cryptorchidi... |
OMIM:619004 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Wide mouth, Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum |
OMIM:618009 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Cryptorchidism, Patellar aplasia, Thick lower lip vermilion, Slend... |
OMIM:613804 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Redundant neck skin, Overlapping toe, Broad hallux, Micrognathi... |
OMIM:300960 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone... |
ORPHA:79324 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th... |
ORPHA:392 |
| Lambert Syndrome |
|
Wide mouth, Branchial anomaly |
ORPHA:1296 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
| Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Cleft upper lip, Short neck, Pectus excavatum, Cleft palate... |
OMIM:609654 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Overlapping toe, Hypospadias, Craniosynostosis, Hydrocephalus, Gingival overgrowth, ... |
OMIM:123790 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Flexion contracture, Wide nasal bridge, Wide mouth, Short philtrum, Talipes equinovarus |
OMIM:613744 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Congenital hip dislocation, Wide nasal bridge, Deviation of finger, Join... |
ORPHA:2412 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Accessory ora... |
ORPHA:434179 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Peri... |
ORPHA:1272 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Joint laxity, Ventriculomegaly, Orofacial cleft |
ORPHA:457260 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Upper limb hypertonia, Ventriculomegaly |
ORPHA:319199 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Multiple Sulfatase Deficiency |
|
Broad hallux, Periorbital edema, Hydrocephalus, Hypoplastic vertebral bodies, Mucopolysaccharidur... |
OMIM:272200 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Cryptorchidism, Deep p... |
ORPHA:1237 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of... |
ORPHA:1225 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cleft, High pala... |
OMIM:309800 |
| Noonan Syndrome 8 |
|
Short neck, Cryptorchidism, Webbed neck, Palmoplantar cutis laxa, Pleural effusion |
OMIM:615355 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Micropenis, Ame... |
OMIM:618021 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi... |
ORPHA:453504 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Abnormal lung lobation, Short philtrum, Arachnodactyly, Abnormal dental... |
ORPHA:567 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi... |
ORPHA:352665 |
| Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng... |
ORPHA:2254 |
| Cog5-Cdg |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Wide nasal bridge, Genu valgum, Finger clino... |
ORPHA:263487 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Long nose, Humeral pseudarthrosis, Oligodontia, Short philtrum, Micr... |
ORPHA:2044 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxi... |
ORPHA:672 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Edema, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolys... |
ORPHA:324964 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Microgna... |
ORPHA:2166 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Brachyce... |
ORPHA:79500 |
| Galloway-Mowat Syndrome 1 |
|
Midface retrusion, Flat occiput, Micrognathia, Wide mouth, High palate, Talipes equinovarus, Camp... |
OMIM:251300 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meni... |
ORPHA:1393 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Talipes equinovarus, Anal atresia |
OMIM:601389 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate... |
ORPHA:899 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Brachycephaly |
ORPHA:70472 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Aplasia/Hypoplasia of the sternu... |
OMIM:219000 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Pectus excavatum of inferior sternum, Rocker bottom foot, Tapered finge... |
OMIM:601353 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Craniosynostosis |
ORPHA:1528 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Frontal bossing, High palate, Short neck |
OMIM:617698 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Tapered finger, Cryptorchidism, Flat acetabular roof, Anteriorly placed anus... |
OMIM:617159 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... |
OMIM:261540 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Joint stiffness, Carious teeth, Hypoplasia of th... |
OMIM:253200 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Brachycephaly, Ap... |
ORPHA:96149 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly ... |
ORPHA:2462 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, High palate, Cubitus valgus, Ureteral trip... |
OMIM:104350 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first ribs, Iliac ho... |
OMIM:161200 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Ventriculomegaly |
ORPHA:96181 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Asymmetry of the mouth, Micrognathia, Long fingers, Hydrocephalus,... |
ORPHA:401973 |
| Rahman Syndrome |
|
Cryptorchidism, Talipes equinovarus, Ventriculomegaly, Camptodactyly |
OMIM:617537 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Joint laxity, Pes planus, Thin upper lip vermilion, Dental crowding, Frontal bossi... |
ORPHA:466791 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Prominent metopic ridge, Micrognathi... |
ORPHA:75857 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin... |
OMIM:602535 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina ... |
OMIM:182940 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Downturned corners of mouth, Craniosynostosis, Narrow mouth |
OMIM:601379 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Tongue fasciculations, Ventriculomegaly |
OMIM:619851 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ge... |
OMIM:620072 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydact... |
ORPHA:220493 |
| Adnp Syndrome |
|
Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Brachycephaly,... |
ORPHA:404448 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Achilles tendon contracture, Calf muscle hypertrophy, R... |
OMIM:603689 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Prominent occiput, Cont... |
ORPHA:96123 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hydrocephalus, Meckel diverticulum, Ventriculomegaly |
ORPHA:163961 |
| Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly |
OMIM:616459 |
| Ohdo Syndrome, X-Linked |
|
Smooth philtrum, Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Cryptor... |
OMIM:300895 |
| Skraban-Deardorff Syndrome |
|
Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Thick upper lip vermilion, V... |
OMIM:617616 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Pes planus, Flexion contracture, Upper limb hypertonia, Short neck |
OMIM:619328 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Osteoporosis, Mild fetal v... |
OMIM:617190 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Thickened calvaria, Short metacarpal, Short fifth metatarsal, Increase... |
ORPHA:79443 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Tented upper lip vermilion, Overlapping toe, Flexion contracture, Extra-axial cerebrospinal fluid... |
OMIM:619383 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Brachycephaly, Wide mouth |
OMIM:608688 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S... |
OMIM:263750 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Frontal bossing,... |
OMIM:617506 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardiorespiratory arrest, Restr... |
ORPHA:26791 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
| Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the ... |
ORPHA:1790 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Micrognathia, Narrow mouth, Microglossia, Dental malocclusi... |
ORPHA:137888 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
| Serkal Syndrome |
|
Pulmonary hypoplasia, Orofacial cleft |
ORPHA:139466 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... |
ORPHA:363958 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Widely spaced teeth, Ventriculomegaly |
OMIM:616116 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Dehydration, Nephrocalcinosis, Distal renal tubular acidosis |
OMIM:602722 |
| Christianson Syndrome |
|
Joint hyperflexibility, Arthrogryposis multiplex congenita, Ventriculomegaly, Adducted thumb |
ORPHA:85278 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Narrow mouth, Short nose, Delayed eruption of permanent teeth, Short distal phalanx... |
OMIM:619356 |
| Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia |
ORPHA:2483 |
| H Syndrome |
|
Hallux valgus, Recurrent fractures, Cleft upper lip, Malabsorption, Hydrocephalus, Osteolysis, Gi... |
ORPHA:168569 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, High palate, Ventriculomegaly, Cleft palate |
OMIM:618603 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Cryptorchidism, Increased nuchal translucency, Cleft palate, Furrow... |
ORPHA:453499 |
| X-Linked Intellectual Disability, Armfield Type |
|
Micrognathia, Cryptorchidism, Abnormality of the elbow, Small hand, Brachycephaly, Cleft palate, ... |
ORPHA:85276 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Exaggerated cupid's bow, Tapered finger, Micrognathia, Wide mouth, Macroglossia, High palate, Tal... |
OMIM:614501 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Hand polydactyly |
ORPHA:65285 |
| Diabetic Embryopathy |
|
Ureteral duplication, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Spinal dysraphis... |
ORPHA:1926 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Edema, Hiatus hernia, Micrognathia, Nar... |
OMIM:617729 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Ankle clonus, Proximal muscle weakness in upper limbs, Respiratory failure |
OMIM:613954 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidis... |
OMIM:618874 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga |
OMIM:109120 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79444 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Polyhydramnios, ... |
OMIM:609465 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Short neck, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, ... |
OMIM:263650 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Micrognathia, Wide nasal bridge, Wide mouth, Oligodontia, Long philtrum, Smooth philtrum |
OMIM:602562 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Micrognathia, Cryptorchidism, Hydroc... |
OMIM:257300 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hydrocephalus, ... |
ORPHA:457284 |
| Pyruvate Dehydrogenase Deficiency |
|
High palate, Osteolytic defects of the middle phalanx of the 4th toe, Ventriculomegaly, Long phil... |
ORPHA:765 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... |
ORPHA:2316 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Orofacial cleft, Hand polydactyly, Foot poly... |
ORPHA:475 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr... |
OMIM:616034 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, Glos... |
OMIM:616367 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Organi... |
ORPHA:99742 |
| Ohdo Syndrome |
|
Joint laxity, Micrognathia, Abnormal foot morphology, Cryptorchidism, Wide nasal bridge, Hypoplas... |
OMIM:249620 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Abnormal thumb morphology, Contractures of the large joints, Everted lower lip... |
ORPHA:324410 |
| Frontoocular Syndrome |
|
Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Narrow mouth, Trigonocephaly, Coron... |
OMIM:605321 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Single transverse palmar crease, Micrognathia, Short neck, Brachycephaly, Widely spaced teeth, Hi... |
OMIM:612474 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Aganglionic megacolon, Polyhydramnios, Tapered finger, Hydrocephalus, Hydrocel... |
OMIM:613603 |
| Galloway-Mowat Syndrome 5 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... |
OMIM:617731 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Smooth philtrum, Ventriculomegaly, Dental crowding, Micrognathia, Long fingers, Thin vermilion bo... |
OMIM:618343 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Downturned corners of mouth, Pes planus, Wide mouth, Short philtrum |
OMIM:619759 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Cleft palate, Short philtrum, Cubitus valgus, Brachydactyly |
ORPHA:247768 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Camptodacty... |
ORPHA:2461 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Edema, Hydrocephalus, Long philtrum, Dandy-Walker malformation |
ORPHA:79332 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
| Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Cryptorchidism, Increased nuchal translucency, High palate, Scolios... |
OMIM:616564 |
| Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure,... |
ORPHA:609 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Respiratory failure, Death in infancy |
OMIM:618240 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Bifid uvula |
OMIM:615959 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula, Micrognathia |
OMIM:615706 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Short neck, Palmoplantar keratoderma, Chronic rhinitis, Finger joint hypermobility, Long philtrum |
OMIM:615225 |
| Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
| Distal Deletion 6P |
|
Ventriculomegaly, Abnormality of the dentition, Micrognathia, Orofacial cleft, Short foot, Downtu... |
ORPHA:96125 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Single transverse palmar crease, Micrognathia, Cryptorchidism, Deep philtrum, Hydrocephalus, High... |
OMIM:614969 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Ventriculomegaly, Hamartoma of tongue |
OMIM:617563 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadias, Rocker ... |
ORPHA:163979 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... |
OMIM:620099 |
| Leopard Syndrome 3 |
|
Dolichocephaly, Short neck, Low posterior hairline, Webbed neck, Cubitus valgus |
OMIM:613707 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis... |
OMIM:217090 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Hyperventilation, Scoliosis, Protruding tongue |
OMIM:614325 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Postaxial... |
OMIM:236680 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Shor... |
OMIM:301091 |
| Short Stature-Webbed Neck-Heart Disease Syndrome |
|
Webbed neck, Short neck |
ORPHA:2865 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Thin upper lip vermilion, Craniosynostosis, Hyperventilation, Kyphosis, Contracture o... |
OMIM:618050 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Tented upper lip vermilion, Flat occiput, Single transverse pal... |
OMIM:618076 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Pes planus, Frontal bossing, Cryptorchidism, Asthma, Wide mouth, Long philtrum, Open mouth |
ORPHA:457485 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... |
OMIM:236700 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Micrognathia, Cleft upper lip, Partial duplication of t... |
OMIM:164210 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Thin upper lip vermilion, Frontal bossing, Sandal gap, Short neck, Dolichocephaly, ... |
OMIM:620330 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Frontal bossing, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental... |
OMIM:616078 |
| Warsaw Breakage Syndrome |
|
Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High palate, Clinodactyly of the... |
OMIM:613398 |
| Mycetoma |
|
Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporosis, Abnormal forearm bone morphology... |
ORPHA:2583 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Wide mouth, Thin upper lip vermilion, Widely spaced teeth |
OMIM:619877 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Abnormality of the dentition, Micrognathia, High, narrow palate... |
ORPHA:2108 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Frontal bossing, Dental crowding, Delayed closure o... |
ORPHA:96182 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon... |
OMIM:604757 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Thin upper lip vermilion, Ventriculomegaly, Long philtrum |
OMIM:617290 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Torticollis, Short neck, Absent phalangeal crease, Spina bifida occult... |
OMIM:611929 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Cleft lip, Kyphosis, Hemivertebrae, Brachycephaly, Narrow palate, Cleft palate, Contr... |
OMIM:618223 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Tooth malposition, Renal hypoplasia, M... |
OMIM:616541 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Horseshoe kidney, Ventriculomegaly |
OMIM:218350 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Crouzon Syndrome |
|
Hydrocephalus, Narrow palate, Multiple suture craniosynostosis |
ORPHA:207 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Abnormality of the dentition, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental mal... |
ORPHA:85321 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Abnormality of the dentition, Low posterior hairline, Wide mouth, Enamel hypoplasia, ... |
OMIM:615802 |
| Distal Deletion 3P |
|
Sacral dimple, Micrognathia, Short neck, Cryptorchidism, Postaxial hand polydactyly, Brachycephal... |
ORPHA:1620 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Sandal gap, Micrognathia, Pectus excavatum, Narrow mouth, Small hand, W... |
OMIM:270450 |
| Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Kyphoscoliosis, Micrognathia, Short neck, High, narrow pala... |
OMIM:163950 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, Micrognathia, Finger clinodactyly, Bilateral talipes equinovarus,... |
ORPHA:261534 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum, Micrognathia |
ORPHA:79113 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Carious teeth, Cryptorchidi... |
ORPHA:96097 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ventriculomegaly, Cleft upper lip, Pyloric stenosis, Cryptorchidism, Hypotrophy... |
OMIM:610443 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p... |
OMIM:619127 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli... |
ORPHA:158687 |
| Warburg Micro Syndrome 3 |
|
Micrognathia, Flexion contracture, Narrow palate, Downturned corners of mouth, Clinodactyly of th... |
OMIM:614222 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Polyhydramnios, Short thumb, Osteoporosis, Cleft palate, H... |
OMIM:612562 |
| Coach Syndrome 1 |
|
Wide mouth, Occipital encephalocele, Postaxial hand polydactyly, Encephalocele |
OMIM:216360 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of... |
OMIM:618619 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad skull, Broad palm, Narrow palate, ... |
OMIM:277600 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narrow mouth, Broad philtrum |
ORPHA:398156 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Ventriculomegaly |
OMIM:230650 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Radial club hand, Esophageal stricture, Hydrocephalus, Cryptorch... |
OMIM:617053 |
| Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, High, narrow palate, Atelectasis, Recurrent pneumonia, Chronic pul... |
OMIM:188400 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot ... |
ORPHA:2318 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Small hand, Short foot, Hip dysplasia, Microp... |
ORPHA:500055 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, M... |
OMIM:614083 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Postaxial hand polydactyly,... |
OMIM:608091 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cough, Cryptorchidism, Increased femoral anteversion, Wid... |
OMIM:617930 |
| Joubert Syndrome 23 |
|
Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia... |
OMIM:615636 |
| Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Thin upper lip vermilion, Polyhydramnios, Carious teeth, Cryptorchidism, ... |
OMIM:176270 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Pes planus, Recurrent respiratory infections, Thickened calvaria, Ab... |
ORPHA:93 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia,... |
OMIM:268300 |
| Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Trisomy 18 |
|
Holoprosencephaly, Bilateral single transverse palmar creases, Microretrognathia, Spina bifida, D... |
ORPHA:3380 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... |
OMIM:194190 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Single transverse palmar crease, Enuresis, Renal Fanconi syndrome... |
OMIM:619743 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, High palate, Joint laxity, Microretro... |
OMIM:601776 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly |
OMIM:615985 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis, Pes valgus |
ORPHA:72 |
| 3Mc Syndrome 2 |
|
Torticollis, Limited elbow movement, Craniosynostosis, Cleft upper lip, Cryptorchidism, Hip dislo... |
OMIM:265050 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna |
OMIM:276822 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Thin upper lip vermilion, Hip dislocation, Widely spaced teeth, Laryngotracheomalacia, Ventriculo... |
OMIM:618547 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, Long nose, High, narrow p... |
ORPHA:1968 |
| X-Linked Intellectual Disability, Snyder Type |
|
Dental crowding, Brachycephaly, High palate, Short philtrum, Long toe, Arachnodactyly, Cryptorchi... |
ORPHA:3063 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Wide mouth, Hip dysplasia, Me... |
OMIM:619426 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Bifid uvula, Joint laxity, Syndactyly, Arachnodactyly, Osteoporosis, Scoliosis, Joi... |
OMIM:610168 |
| Tatton-Brown-Rahman Syndrome |
|
Ventriculomegaly, Cryptorchidism, Short toe, Deep philtrum, Widely-spaced maxillary central incis... |
ORPHA:404443 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Ventriculomegaly, Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Deep philtrum, Esophageal a... |
OMIM:610536 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Tongue fasciculations, Intrinsic hand muscle atrophy |
OMIM:620285 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Neonatal respiratory distress, Congenital hip dislocation, Long palm, S... |
OMIM:244450 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Everted lower lip vermilion, Short philtrum, Ventriculomegaly, Long philtrum |
OMIM:619556 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho... |
OMIM:163200 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Palpebral edema, Camptodactyly of finger, Unilateral renal agenesis, Tapered fing... |
ORPHA:261337 |
| Nizon-Isidor Syndrome |
|
Pes planus, Thin upper lip vermilion, Thoracolumbar kyphosis, Long fingers, High, narrow palate, ... |
OMIM:618872 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Wide mouth |
ORPHA:411515 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hy... |
ORPHA:3042 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
| Chromosome 4Q21 Deletion Syndrome |
|
Frontal bossing, Dolichocephaly, Narrow mouth, Downturned corners of mouth, Short philtrum, Long ... |
OMIM:613509 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
| Trisomy 18P |
|
Micrognathia, Bilateral cryptorchidism, Abnormal foot morphology, High, narrow palate, Abnormal f... |
ORPHA:1715 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft ... |
ORPHA:1555 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Han... |
ORPHA:261197 |
| Xq28 (MECP2) duplication |
|
Death in childhood, Recurrent respiratory infections, Brachycephaly, Narrow mouth |
DECIPHER:45 |
| Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, High palate, Thick vermilion bo... |
OMIM:618651 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Protruding tongue, Postaxial hand polydactyly, Renal cyst, Occi... |
OMIM:213300 |
| Alexander Disease |
|
Osteopenia, Frontal bossing, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocepha... |
ORPHA:58 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Brachycephaly, Cleft pal... |
OMIM:603116 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| Phelan-Mcdermid Syndrome |
|
Ventriculomegaly, Palpebral edema, Micrognathia, Lymphedema, Dental malocclusion, 2-3 toe syndact... |
OMIM:606232 |
| Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, 2-3 toe syndactyly, Cutaneous finger syndactyly, Everted lower lip vermilion, Ven... |
ORPHA:314389 |
| Tetraamelia Syndrome 1 |
|
Cleft upper lip, Micrognathia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, ... |
OMIM:273395 |
| X-Linked Intellectual Disability, Pai Type |
|
Recurrent respiratory infections, Tapered finger, Cryptorchidism, Hydrocele testis, Narrow mouth |
ORPHA:85322 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Cryptorchidism, Microphallus, Hip subluxation, Ventriculomegaly |
OMIM:300957 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis... |
ORPHA:319675 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Brachycephaly, Hypoplastic coccyge... |
OMIM:619512 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
OMIM:243440 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Malabsorption, Rickets, Dehydration, Renal tubular dysfunction,... |
ORPHA:213 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Polyhydramnios, Holoprosencephaly, Narrow mouth, Mandibular aplasia, Microgl... |
ORPHA:990 |
| Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Missing ribs, Short neck, Kyphoscoliosis, Cryptorchidis... |
OMIM:151100 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Unilateral cryptorchidism, Cryptorchidism, Talipes equinovarus, Ventriculomegaly |
OMIM:617788 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Short philtrum, Ventriculomegaly |
ORPHA:85277 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Macroorchidism, Recurrent fractures, Osteomal... |
ORPHA:562 |
| Goldberg-Shprintzen Syndrome |
|
Tapered finger, Short neck, Increased femoral anteversion, Small hand, Wide nasal bridge, Oligodo... |
OMIM:609460 |
| 19P13.13 Microdeletion Syndrome |
|
Pes planus, Thin upper lip vermilion, Sandal gap, Dolichocephaly, Pectus excavatum, Long fingers,... |
ORPHA:357001 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia... |
OMIM:611812 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Increased CSF ... |
ORPHA:468699 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Hypospadias, Coxa valga, Tapered finger, Diastema, Protruding tongu... |
OMIM:301040 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Narrow mouth, J... |
OMIM:615381 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Short upper lip, Macroglossia, Ventriculomegaly |
OMIM:615809 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger synda... |
OMIM:107480 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Donohue Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Large hands, Long foot |
OMIM:246200 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Ventriculomegaly, Tapered finger, Abnormality of the dentition, Thick lower lip verm... |
ORPHA:261652 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... |
ORPHA:261323 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Ventriculomegaly, Amelogenesis imperfecta |
OMIM:226750 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth |
ORPHA:2760 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pes planus, Thin upper lip vermilion, Tapered finger, Micrognathia, Long fingers, Narrow mouth, C... |
OMIM:616734 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Frontal bossing, Broad hallux, Narrow palm, 2-3 toe syndactyly, Wide mouth, High palate, Joint co... |
OMIM:619934 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Cryptorchidism, Osteoporosis, Small hand, Xerostomia, Short... |
ORPHA:398079 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Multiple joint contractures, Arachnodactyly, Hypospadias, Unilater... |
ORPHA:464306 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Thin upper lip vermilion, Single transverse palmar crease, Asthma, Nasal flaring, Wid... |
ORPHA:466943 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... |
OMIM:617088 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis, Craniosynostosis, Micrognathia, Downturne... |
ORPHA:1064 |
| Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Thin upper lip vermilion, Frontal bossing, Micrognathia, Cleft lip, Wide nasal bridge... |
OMIM:301022 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Brachycephaly |
OMIM:616083 |
| 3Mc Syndrome 1 |
|
Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Cleft lip, Wide ... |
OMIM:257920 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Everted lower lip vermilion, Short phi... |
OMIM:601499 |
| Noonan Syndrome 6 |
|
Short neck, Pectus excavatum, Cryptorchidism, Wide nasal bridge, Low posterior hairline, Webbed neck |
OMIM:613224 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Coronal craniosynostosis, Aglossia, Micrognathia |
OMIM:241310 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Pes planus, Overlapping toe, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Cryptorchidism, Proximal renal tubular acidosis, Increased CSF lactate, Ol... |
OMIM:615824 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus... |
ORPHA:521445 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Flat occiput, Cleft upper lip, Short neck, Long fingers, Cryptorchidi... |
OMIM:614294 |
| Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Micrognathia, Short neck, Wide anterior fontanel, Cryptorchidism, ... |
ORPHA:3338 |
| Weill-Marchesani Syndrome 2 |
|
Broad skull, Short metatarsal, Brachycephaly, High palate, Broad ribs, Broad metacarpals, Short m... |
OMIM:608328 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy |
OMIM:560000 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
| Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Abnormal dental m... |
ORPHA:2136 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Webbed neck, Downturned corners of mouth,... |
ORPHA:1780 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis |
OMIM:615849 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Toe syndactyly, Single transverse pal... |
ORPHA:459070 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... |
ORPHA:99413 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... |
ORPHA:881 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Sandal gap, Ca... |
OMIM:619229 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Narrow mouth |
ORPHA:261222 |
| X-Linked Intellectual Disability, Wilson Type |
|
Wide mouth, Thick vermilion border, Brachycephaly, Hydrocele testis |
ORPHA:85290 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Joint stiffness, Micrognath... |
ORPHA:1300 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Finger syndactyly, Postaxial hand polydactyly, Short neck |
ORPHA:110 |
| 47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermia, Ma... |
ORPHA:8 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Ventriculomegaly |
ORPHA:370959 |
| Sotos Syndrome |
|
Joint laxity, High, narrow palate, Cryptorchidism, Long metacarpals, Narrow palate, Genu valgum, ... |
OMIM:117550 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, ... |
OMIM:618460 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pes planus, Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Wide nasal bridge, Hip... |
OMIM:616977 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil... |
OMIM:619777 |
| Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis |
OMIM:267200 |
| Kilquist Syndrome |
|
Wide mouth, Hypoplasia of teeth, 2-3 toe syndactyly, Coxa valga |
OMIM:619080 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Brachycephaly, Short philtrum, Holoprosencephaly, Clinodactyly o... |
ORPHA:1449 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly... |
ORPHA:857 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Mi... |
OMIM:309350 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Extra-axial cerebrospinal fluid accumulation, Long philtr... |
OMIM:619179 |
| Myopathy With Extrapyramidal Signs |
|
Joint laxity, Calf muscle hypertrophy, Tented upper lip vermilion, Short neck |
OMIM:615673 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... |
ORPHA:667 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia, Ventriculomegaly |
OMIM:613730 |
| Developmental And Epileptic Encephalopathy 65 |
|
Tented upper lip vermilion, Ventriculomegaly |
OMIM:618008 |
| Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Scapular winging, U... |
ORPHA:101085 |
| Crouzon Syndrome |
|
Dental crowding, Sagittal craniosynostosis, Hydrocephalus, High palate, Lambdoidal craniosynostos... |
OMIM:123500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hip dislocation, Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
| Macrocephaly, Benign Familial |
|
Ventriculomegaly, Long philtrum |
OMIM:153470 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, Agenesis of incisor, Dental malocclu... |
OMIM:610829 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b... |
ORPHA:261494 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Respiratory insufficiency, R... |
ORPHA:746 |
| Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open bit... |
ORPHA:828 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Cystic hygroma |
OMIM:313850 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Sacral dimple, Dental crowding, Redundant neck skin, Short nec... |
OMIM:617157 |
| Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Delayed cranial suture closure, Tapered finger, Abnorm... |
OMIM:601088 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Frontal bossing, Deep philtrum, Respiratory insufficiency, Wide mouth, Talipes equino... |
OMIM:617260 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventriculomegaly, Hypospadias, Micrognathia, Cleft lip, Cryptorchidism, Vesicouretera... |
OMIM:616975 |
| Meier-Gorlin Syndrome 2 |
|
Smooth philtrum, Micrognathia, Dolichocephaly, Narrow mouth, Patellar aplasia, Slender long bone,... |
OMIM:613800 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephaly, Micrognathia, Short neck, Wid... |
ORPHA:1587 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Micrognathia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ven... |
ORPHA:300570 |
| Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, High, narrow palate, Cryptorchidism... |
ORPHA:276432 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Congenital contracture... |
OMIM:613150 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
| Noonan Syndrome 2 |
|
Micrognathia, Short neck, Cryptorchidism, Pectus excavatum, Increased nuchal translucency, Low po... |
OMIM:605275 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Polyhydramnios, Protrudi... |
OMIM:617062 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Wi... |
ORPHA:2282 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Polyhydramnios, Micrognathia, Fetal ascites, Split hand, Renal cyst, Hammertoe, High ... |
OMIM:261515 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios, Ventriculomegaly |
ORPHA:521390 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand polydactyly, Abn... |
ORPHA:226307 |
| Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Exaggerated cupid's bow, Sagittal craniosynostosis, Deep philtrum, T... |
OMIM:615879 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Long neck, Premature osteoar... |
OMIM:611962 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency, Dental mal... |
OMIM:209885 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
| Scheie Syndrome |
|
Joint stiffness, Limitation of joint mobility, Wide mouth, Rhinitis, Thick vermilion border, Ever... |
ORPHA:93474 |
| Icf Syndrome |
|
Communicating hydrocephalus, Malabsorption, Micrognathia, Protruding tongue, Macroglossia |
ORPHA:2268 |
| Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... |
ORPHA:1401 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P... |
ORPHA:2211 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Lissencephaly 8 |
|
Occipital encephalocele, Talipes equinovarus, Ventriculomegaly |
OMIM:617255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Palpebral edema, Unilateral renal agenesis, Thin lower lip vermilion, Clinodactyly of... |
ORPHA:221139 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism,... |
OMIM:613457 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... |
ORPHA:1675 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormal rib morphology, Pulmonary ar... |
ORPHA:991 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... |
ORPHA:199276 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Ventriculomegaly, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplas... |
ORPHA:264200 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
High palate, Ventriculomegaly |
OMIM:615760 |
| Snijders Blok-Campeau Syndrome |
|
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia, Ventriculomegaly |
OMIM:618205 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Flexion contracture, Renal hypoplasia, ... |
OMIM:619321 |
| Fraser Syndrome 2 |
|
Narrow mouth, Respiratory failure, Short neck, Cutaneous syndactyly |
OMIM:617666 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia |
ORPHA:2260 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Overlapping toe, Palpebral edema, Protruding tongue, Deep philtrum, Gingiva... |
ORPHA:99843 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Prader-Willi Syndrome |
|
Osteopenia, Edema, Abnormality of the dentition, Cryptorchidism, Small hand, Osteoporosis, Xerost... |
ORPHA:739 |
| Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Ventriculomegaly, Micrognathia, Thick lower lip vermilion, Widely space... |
OMIM:618004 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip ve... |
OMIM:617281 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Ventriculomegaly, Polyhydramnios, Micrognathi... |
ORPHA:1052 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Flat occiput, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly, Short philtrum, Cleft palate, Micrognathia |
OMIM:619074 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Nephrolithiasis, Nep... |
OMIM:179800 |
| Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Nuchal rigidi... |
ORPHA:533 |
| Developmental And Epileptic Encephalopathy 6B |
|
Scoliosis, Narrow mouth |
OMIM:619317 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Myocarditis, Leukocytosis |
ORPHA:829 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Microhydranencephaly |
|
Hydranencephaly, Multiple joint contractures, Talipes equinovarus, Ventriculomegaly |
OMIM:605013 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Hydrocephalus, Cryptorchi... |
ORPHA:77298 |
| Bazex-Dupre-Christol Syndrome |
|
Joint hypermobility, Furrowed tongue |
OMIM:301845 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Narrow mouth |
ORPHA:3469 |
| Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus, Pedal edema, Ascites |
ORPHA:381 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio... |
ORPHA:353277 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Redundant ... |
ORPHA:2729 |
| Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding |
ORPHA:449285 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Short neck, Pectus excavatum, Cleft palate, High palate, Scoliosis |
ORPHA:52055 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Deep philtru... |
OMIM:150230 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... |
ORPHA:2538 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Ventriculomegaly, Smooth philtrum, Long philtrum |
OMIM:616430 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Pes planus, Overlapping toe, Dental crowding, Kyphoscoliosis, Bilateral cryptorchid... |
OMIM:617402 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda... |
ORPHA:1454 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture, Renal cortical cysts, Thin vermilion border, Ventric... |
OMIM:609180 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Chronic pulmonary obstruction, ... |
ORPHA:125 |
| White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short neck, Brachycephaly, Downturned corners of mouth, H... |
ORPHA:468678 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Short neck, Deep philtrum, ... |
ORPHA:647 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl... |
OMIM:217100 |
| Coccidioidomycosis |
|
Renal insufficiency, Osteomyelitis, CSF pleocytosis, Hydrocephalus, Osteolysis, CSF lymphocytic p... |
ORPHA:228123 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Frontal bossing, Micrognathia, Short neck, Aplasia/hypoplasia in... |
ORPHA:96176 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Thickened nuchal skin fold, Redundant neck skin, Proximal placement of thumb, Trigonocephaly, Nar... |
OMIM:604314 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cl... |
OMIM:619103 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Intestinal malrotation, Short hallux, Micrognathia, Unilateral renal agenesis, ... |
OMIM:620305 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hyd... |
OMIM:619895 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Wide mouth, Widely spaced primary teeth, Decreased testicular size |
OMIM:300953 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Long penis, Gingival overgrowth, Furrowed tongue, ... |
ORPHA:769 |
| 3Q27.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Dental crowding, Kyphoscoliosis, Short philtrum, Narrow... |
ORPHA:397695 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Hypospadias, Craniosynostosis, Cleft upper lip, Alobar holoprosence... |
OMIM:615465 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:581 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Downturned corners o... |
ORPHA:96147 |
| Kid Syndrome |
|
Angular cheilitis, Lip fissure, Coxa valga, Equinus calcaneus, Abnormality of the dentition, Pate... |
ORPHA:477 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:615108 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Thin upper lip vermilion, Frontal bossing, Micrognathia, Narrow mouth, 2-3 toe cutane... |
OMIM:620029 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Fat malabsorption, Rickets |
OMIM:211600 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
| Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum, Short nose |
ORPHA:1906 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Cryptorchidism, Flexion contracture, Osteoporosis, Small ha... |
ORPHA:398069 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short phi... |
OMIM:608572 |
| Meester-Loeys Syndrome |
|
Ventriculomegaly, Arachnodactyly, Gingival overgrowth, High palate, Broad distal phalanx of finge... |
OMIM:300989 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Rickets, Nephrocalcinosis |
OMIM:611590 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cryptorchidism, Gout, Wide mouth, High palate, Death in childhood, Short nose |
OMIM:300661 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... |
ORPHA:980 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Lateral ventricle dilatation,... |
OMIM:612301 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Homocystinuria, Cystathioninuria, Tracheoesophageal fistula, Methylmalo... |
OMIM:277380 |
| Renal Agenesis |
|
Pulmonary hypoplasia, Talipes equinovarus |
ORPHA:411709 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Sacral Defect With Anterior Meningocele |
|
Absence of the sacrum, Neurogenic bladder, Myeloschisis, Hydrocephalus, Myelomeningocele, Meningo... |
OMIM:600145 |
| Trichohepatoenteric Syndrome 1 |
|
Frontal bossing, Avascular necrosis of the capital femoral epiphysis, Narrow mouth, Wide mouth, L... |
OMIM:222470 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Eosinophilic infiltration of the esophagus, Micro... |
OMIM:609192 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood |
OMIM:617186 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus |
ORPHA:31 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, C... |
ORPHA:468631 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Ventriculomegaly, Hypospadias, Craniosynostosis, Micrognathia, Cleft lip, Cryptorchi... |
ORPHA:2745 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Protruding tongue |
OMIM:619580 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Respiratory failure, Talipes equinovarus, Distal lower limb muscle we... |
ORPHA:14 |
| Bilateral Polymicrogyria |
|
Micrognathia, Wide mouth, Talipes equinovarus, Difficulty in tongue movements, Arthrogryposis mul... |
ORPHA:268940 |
| Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Osteomyelitis, Dyspnea, Flexion contracture, Ab... |
ORPHA:90291 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pads, Micropenis, Cryp... |
OMIM:147920 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici... |
OMIM:618278 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Lateral ventricle dilatation, Thin vermilion border, High p... |
OMIM:619869 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Cryptorchidism, Osteoporosis, Small hand, Pedal edema, Short foot, Downturned corners... |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Thin upper lip vermilion, Cryptorchidism, Osteoporosis, Small hand, Pedal edema, Shor... |
ORPHA:177901 |
| Saethre-Chotzen Syndrome |
|
Long nose, Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodacty... |
OMIM:101400 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:615109 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Pedal edema, Respiratory failure, Paroxysmal dyspnea, Pulmo... |
ORPHA:563 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Wide nasal bridge, Dolichocephaly, Narrow mouth |
ORPHA:324581 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Gingival overgrowth, Ventriculomegaly, Protruding tongue |
OMIM:620352 |
| Cardiac-Urogenital Syndrome |
|
Unilateral cryptorchidism, Cryptorchidism, Partial anomalous pulmonary venous return, 2-3 toe syn... |
OMIM:618280 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Oligoarthritis, Furrowed tongue |
OMIM:614204 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Joint stiffness, Micrognathia, Abnormality of the lower limb, Pectus excavatum, Flexi... |
ORPHA:1979 |
| Proteus-Like Syndrome |
|
Open bite, Hyperostosis, Hydrocephalus, Communicating hydrocephalus |
ORPHA:2969 |
| X-Linked Agammaglobulinemia |
|
Arthritis, Glossoptosis, Osteomyelitis, Malabsorption |
ORPHA:47 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Flexion contracture, Hip dysplasia, Steatorrhea, Arthrogryposis multiplex co... |
ORPHA:440713 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Renal insufficiency, Cleft lip, High palate, Long philtrum, Increased CSF prot... |
OMIM:251290 |
| Schilbach-Rott Syndrome |
|
Micrognathia, Long nose, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cu... |
OMIM:164220 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Abnormality of ... |
ORPHA:90154 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Gingival ... |
OMIM:301072 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue |
ORPHA:140936 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Hydrocephalus, Osteoporosis, Oligozoospermia, Ascites |
ORPHA:91348 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Cryptorchidism, Osteoporosis, Small hand, Pedal edema, Short foot, Downturned corners... |
ORPHA:98793 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Alobar holoprosencephaly, Hydrocep... |
OMIM:610828 |
| Houge-Janssens Syndrome 3 |
|
Single transverse palmar crease, High palate, Short philtrum, Ventriculomegaly |
OMIM:618354 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Communicating hydrocephalus, Arachnodactyly, Large hands, High palate, Ventriculome... |
OMIM:617011 |
| Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck, Abnormal cervical myelogram, Platybasia, Craniofacial asymmetry |
OMIM:109500 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Cryptorchidism, Osteoporosis, Small hand, Pedal edema, Short foot, Downturned corners... |
ORPHA:177904 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Brachycephaly, Knee flexion contracture, Reduced b... |
OMIM:259050 |
| Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:206436 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Wide anterior fontanel, Hydrocephalus, Abnormal cortical bone morphology |
OMIM:614886 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Low posterior... |
OMIM:601321 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Limb joint contracture, Coxa valga,... |
ORPHA:404454 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Hydrocephalus, Macroglossia, Anasarca, Peripheral edema, Pleural effusion, ... |
OMIM:261740 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Scleromyxedema |
|
Abnormality of the hand, Abnormal lung morphology, Exertional dyspnea, Abnormality of the neck, A... |
ORPHA:167635 |
| 1P36 Deletion Syndrome |
|
Brachycephaly, Abnormality of the neck, Clinodactyly of the 5th finger, Cryptorchidism, Rib fusio... |
ORPHA:1606 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Hydroureter, Intestinal malr... |
OMIM:258040 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ... |
ORPHA:18 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Short foot, Small hand, Ventriculomegaly |
OMIM:617903 |
| Arima Syndrome |
|
Dyspnea, Postaxial hand polydactyly, Tachypnea, Postaxial foot polydactyly, Wide mouth, Occipital... |
OMIM:243910 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microdontia, Short neck |
OMIM:619955 |
| Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Micrognathia, Pectus excavatum, Narrow mouth, Wide nasal b... |
OMIM:309500 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Hypospadias, Micrognathia, Small hand, Vesicoureteral reflux, Fibular h... |
ORPHA:444077 |
| Hartnup Disease |
|
Abnormal urinary color, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoaciduria |
ORPHA:2116 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Micrognathia, Cleft upper lip, Cryptorchidism, Hydroce... |
OMIM:236670 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Thin upper lip vermilion, Asthma, Oligodontia, Hypodontia, Narrow mouth, Microdontia, Long philtrum |
OMIM:618092 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... |
OMIM:303600 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Single transverse palmar crease, Protruding tong... |
OMIM:190685 |
| Boutonneuse Fever |
|
Abnormality of the plantar skin of foot, Abnormal skin morphology of the palm, Respiratory failure |
ORPHA:83313 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Ankle flexion contracture, Tapered finger, Unilateral renal agenesis, Cryptorchidism... |
ORPHA:464311 |
| Generalized Pustular Psoriasis |
|
Renal insufficiency, Cheilitis, Pedal edema, Arthritis, Geographic tongue |
ORPHA:247353 |
| Legius Syndrome |
|
Non-small cell lung carcinoma, Diaphyseal dysplasia, Polydactyly, Scoliosis, Clinodactyly of the ... |
ORPHA:137605 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Polyhydramnios, Increased CSF lactate, Hip subluxation, Ventriculomegaly |
ORPHA:500144 |
| Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
| Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Frontal bossing, Multiple pterygia, Pectus excavatum, Talipes equinovarus, Nar... |
OMIM:177980 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux, Hydronephrosis, ... |
OMIM:613735 |
| Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Clinodactyly, Brachycephaly, High palate, Short phalanx of finger,... |
OMIM:614188 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Abnormal toe morphology, Abnorma... |
ORPHA:268261 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis,... |
ORPHA:488627 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Short neck |
OMIM:610832 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Polyhydramnios |
OMIM:600559 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Exaggerated cupid's bow, Spina bifida, Tapered finger, Dolichocepha... |
OMIM:619480 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, Cleft lip, Limitation of joint mobi... |
ORPHA:97297 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Micrognathia, Malabsorption, Cryptorchidism, Ventricu... |
ORPHA:452 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati... |
ORPHA:324540 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Respiratory failure, Death in childhood |
OMIM:619847 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Solitary median maxillary central inc... |
OMIM:142945 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Ventriculomegaly, High palate, Hypospadias, Increased CSF lactate |
OMIM:619272 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Wide mouth, Micrognathia |
ORPHA:79350 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements |
ORPHA:99949 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Clinodactyly of th... |
ORPHA:2135 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dilated third... |
OMIM:613154 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:158350 |
| Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormality of the ureter, Mec... |
ORPHA:1666 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Ventriculomegaly, Polyhydramnios, Micrognathia, Wide anterior fontanel,... |
OMIM:618548 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia |
ORPHA:920 |
| Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Cleft upper lip, Hiatus hernia, Malabsorption, Missing rib... |
ORPHA:50 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Ventriculomegaly |
OMIM:616831 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Hydrocephalus, Red-brown urine, ... |
ORPHA:228308 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Polydactyly, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Osteomalacia, Edema, Osteoarthritis, Esophageal varix, Osteoporos... |
OMIM:277900 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
| Congenital Myopathy 13 |
|
Micrognathia, Cryptorchidism, Flexion contracture, Cleft palate, Downturned corners of mouth, Hig... |
OMIM:255995 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Thick lower lip vermilion, Narrow mouth, Thick upper lip vermilion, Midface retr... |
OMIM:608624 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Dolichocephaly, Abnormal thumb morphology, Cryptorchidism, Limitation of joint mo... |
ORPHA:2719 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
| Charge Syndrome |
|
Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Cryptorchid... |
ORPHA:138 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Broad neck, Short neck, Brachydactyly |
ORPHA:168577 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Malabsorption, Rickets, Hypercalciuria, ... |
OMIM:227810 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Polyhydramnios, Enuresis, Tented upper lip vermilion, Ventriculomegaly |
ORPHA:589821 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Thoracolumbar kyphoscoliosis, Short neck |
ORPHA:231720 |
| Mpdu1-Cdg |
|
Wide anterior fontanel, Ventriculomegaly, Thin vermilion border, Renal cortical cysts |
ORPHA:79323 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Short philtrum... |
ORPHA:261537 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia |
OMIM:148210 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria, Cleft palate, Stomatitis, Glossitis |
ORPHA:79284 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Vent... |
ORPHA:355 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb |
OMIM:614643 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
| Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Submucous cleft hard palate, Tachypnea, Cleft palate, N... |
ORPHA:3426 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Pes planus, Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Thin upper lip vermilion, Resp... |
ORPHA:79318 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Metaphyseal widening, Rickets, Sta... |
OMIM:219800 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Respiratory failure... |
ORPHA:731 |
| Martin-Probst Syndrome |
|
Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, ... |
OMIM:300519 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Osteopetrosis |
ORPHA:3240 |
| Cowden Syndrome |
|
Abnormal penis morphology, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pal... |
ORPHA:201 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplas... |
ORPHA:79396 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hydrocephalus, Renal tubular acidosis, Lateral ventricle dilatation, Short p... |
OMIM:619575 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Micrognathia, Protruding tongue |
OMIM:242860 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Whipple Disease |
|
Arthritis, Hydrocephalus, Pedal edema, Malabsorption |
ORPHA:3452 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postax... |
OMIM:619562 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Edema, Osteoporosis, Rickets, Colitis, Steatorrhea |
ORPHA:309031 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Micrognathia |
OMIM:620157 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Webbed neck, Short neck |
OMIM:616559 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Downturned corners of mouth, Abnormal hip bone morphology, Narrow mouth, Genu varum |
ORPHA:1110 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Respiratory failure, Limb joint contracture |
OMIM:620327 |
| Diamond-Blackfan Anemia |
|
Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,... |
ORPHA:124 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Short neck, Cryptorchidism, Deep palmar crease, High palate, Webbed ... |
OMIM:607721 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Short upper lip, Wide mouth, Cutaneous finger syndactyly, Talip... |
OMIM:200110 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Micrognathia, Abnormal tibia morphology, Bone cyst, Hydrocephalus, Genu valgum, Large hands, High... |
ORPHA:363700 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Urinary incontinence, Micrognathia, Retractile testis, Widely spaced teeth, Tongue fasciculations... |
OMIM:617193 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod... |
OMIM:613406 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Osteomalacia, Parathormone-independent increased renal tubular... |
OMIM:600740 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... |
OMIM:119500 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Urinary incontinence, Hand muscle weakne... |
ORPHA:466768 |
| Branchiooculofacial Syndrome |
|
Cryptorchidism, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Cleft... |
OMIM:113620 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Hy... |
ORPHA:2556 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Decreased cervical spine mobility, Polydactyly, Holoprosencephaly, Osteoporosis of ve... |
ORPHA:95494 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Short foot, Renal tubular acidosis, Everted lower lip vermilion, Ventriculomegaly |
OMIM:615471 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnorm... |
OMIM:607872 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr... |
ORPHA:89842 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed anus... |
OMIM:309801 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida |
OMIM:207950 |
| Penile Agenesis |
|
Cryptorchidism, Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Sho... |
ORPHA:49 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Hydrops fetalis, Methyl... |
ORPHA:79282 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Single transverse palmar crease, Micrognathia, Abnormality of canine, Short neck, Airway obstruct... |
ORPHA:261584 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
| Leigh Syndrome |
|
Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration |
ORPHA:506 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Sydney crease, Craniosynostosis, ... |
ORPHA:506358 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, High, narrow palate, Short philtrum, High palate, Micropenis, Jo... |
OMIM:619475 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Abnormality of the gingiva, Osteo... |
ORPHA:513456 |
| Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis |
ORPHA:85448 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Smooth philtrum, Long philtrum |
ORPHA:404473 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Thin upper lip vermilion, Cryptorchidism, Short philtrum, Microphallus, Micropenis, Ventriculomegaly |
OMIM:300486 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Communicating hydrocephalus, Arachnodactyly, Limitation of joint mobility, High pal... |
ORPHA:457359 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria |
OMIM:268315 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Widely spaced ... |
ORPHA:2152 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... |
ORPHA:99956 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck |
ORPHA:2912 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Carious tee... |
OMIM:216400 |
| Short Stature And Microcephaly With Genital Anomalies |
|
Narrow mouth, Scoliosis, Genu valgum |
OMIM:618702 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Abnormal renal corticomedullary differentiation, Pleural effusion, ... |
OMIM:617397 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Cryptorchidism, Wide mouth, Hip dysplasia, Joint hypermobility |
OMIM:618846 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture |
OMIM:615249 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Foot joint contractu... |
ORPHA:79408 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, D... |
ORPHA:722 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Hypospadias, Micrognathia, Hip subluxation, Short thumb, Slender finger, Velopharyn... |
OMIM:619325 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Short philtrum... |
ORPHA:261552 |
| Sturge-Weber Syndrome |
|
Hyperostosis, Hydrocephalus, Gingival overgrowth |
ORPHA:3205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Ventriculomegaly, De... |
OMIM:615287 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Increased urine succinate level, Polyhydramnios, Choroid plexus cyst, ... |
OMIM:606812 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Carious teeth, Cryptorchidis... |
OMIM:133540 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Edema, Polyhydramnios, Aqueductal stenosis, Neonatal death, Syndactyly, Broad first m... |
OMIM:619534 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Giant Cell Arteritis |
|
Renal insufficiency, Joint stiffness, Hematuria, Arthritis, Glossitis |
ORPHA:397 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i... |
OMIM:257980 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth, Wide nasal bridge |
ORPHA:1231 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Polyhydramnios |
ORPHA:2119 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Hydrops fetalis, CSF lymphocytic pleiocytosi... |
ORPHA:292 |
| Gapo Syndrome |
|
Ventriculomegaly, Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip verm... |
OMIM:230740 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| 1P21.3 Microdeletion Syndrome |
|
Wide mouth, Short nose, Joint hypermobility, Micrognathia |
ORPHA:293948 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Ileus, Arthritis, Ventriculomegaly |
OMIM:304790 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Kapur-Toriello Syndrome |
|
Orofacial cleft, Short neck |
ORPHA:2328 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Deep philtrum, Ventriculomegaly |
ORPHA:289483 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Short neck |
OMIM:221750 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa... |
ORPHA:805 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Cleft palate, Neural tube ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Cleft palate, Neural tube ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Cleft palate, Neural tube ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Cleft palate, Neural tube ... |
ORPHA:93924 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Ventriculomegaly, Renal potassium wasting |
OMIM:618314 |
| Warburg Micro Syndrome 4 |
|
Cryptorchidism, Narrow mouth, Flexion contracture, Brachycephaly, Long philtrum, Decreased testic... |
OMIM:615663 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... |
OMIM:615726 |
| Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Increased CSF lactate, Congenital contracture, Arthrogryposis multiplex cong... |
OMIM:618397 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... |
ORPHA:158668 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome... |
OMIM:619603 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Osteomalacia, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetalis, St... |
ORPHA:51608 |
| Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Generalized joint laxity, H... |
OMIM:619472 |
| Seckel Syndrome 9 |
|
Polyhydramnios, Talipes equinovarus, Ventriculomegaly, Micrognathia |
OMIM:616777 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bottom foot, Hypospadias, Cryptorchid... |
OMIM:201750 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar crease, Polyhydramn... |
OMIM:620186 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum |
ORPHA:1051 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus |
OMIM:616538 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hydrocephalus, Micrognathia |
OMIM:620155 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Premature loss of teeth, Ascites, Enamel hypoplasia, Ventriculo... |
OMIM:610965 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter... |
OMIM:162200 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
ORPHA:2306 |
| Beckwith-Wiedemann Syndrome |
|
Prominent metopic ridge, Wide anterior fontanel, Cryptorchidism, Cleft palate, Wide mouth, Macrog... |
ORPHA:116 |
| Knobloch Syndrome |
|
Occipital encephalocele, Pyloric stenosis, Hydrocephalus, Joint hyperflexibility, Vesicoureteral ... |
ORPHA:1571 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Recurrent fractures, Micrognathia, Persistence of primary teeth, Abnormality ... |
ORPHA:2785 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
| Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Cerebral edema |
ORPHA:97339 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Ventriculomega... |
OMIM:100300 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Limitation of joint mobility, Gingival overgrowth, Abnormal epiphyse... |
ORPHA:580 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norep... |
ORPHA:653 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micrognathia, Wide nasal bridge, Hydrocele testis, Narrow mouth, Neonatal death |
OMIM:618810 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Dehydration, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Re... |
ORPHA:411629 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly |
OMIM:253800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fasciculations |
OMIM:252010 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Flexion contracture, Thin ribs |
OMIM:614833 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Rickets |
OMIM:612089 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... |
OMIM:619539 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis, Proteinuria |
ORPHA:35858 |
| Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventriculomegaly, Hydroureter, Hypospadias, Intestinal malrotation, Polyhydramnios, Micrognathia,... |
OMIM:265380 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly, Thick lower lip vermilion, Downturned c... |
OMIM:614756 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Hydrocephalus, Holoprosenc... |
ORPHA:2356 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Hydromyelia, Occi... |
ORPHA:268810 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Wide nasal bridge, Oxyc... |
OMIM:618971 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Cryptococcosis |
|
Osteomyelitis, Hydrocephalus, Osteolysis, Pleural effusion, Cerebral edema |
ORPHA:1546 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Renal cyst, Cleft palate, Pulmonary edema |
ORPHA:137675 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Abnormality of th... |
ORPHA:273 |
| Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Cryptorchidism, Hydrocephalus, Genu valgum, Slender long bo... |
ORPHA:636 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Lymphedema, Hydrocephalus, Chylopericardium, Hematuria, Multiple renal cy... |
ORPHA:538 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Chylothorax |
ORPHA:137667 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Kawasaki Disease |
|
Proteinuria, Edema, Cheilitis, Sterile pyuria, Arthritis, Glossitis |
ORPHA:2331 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis |
OMIM:249100 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth |
OMIM:251800 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria, Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Bronchitis, Pneumonia, Oral ulcer, Bronchiectasis, Arthritis, Joint ... |
OMIM:619381 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Ven... |
ORPHA:25 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Cryp... |
OMIM:308205 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Narrow mouth, Enamel hypoplasia, Mitten deformity |
OMIM:226600 |
| Oculoectodermal Syndrome |
|
Parietal bossing, Short neck, Wide nasal bridge, Lower limb asymmetry |
OMIM:600268 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o... |
ORPHA:286 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland... |
OMIM:154500 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Hydrocephalus, Esophageal varix, Azoospermia, Gastric ulcer, Ventriculomegaly |
ORPHA:2072 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Renal insufficiency, Urinary incontinence, Spina bifida, Epispadias, Penoscrotal t... |
ORPHA:322 |
| Microsporidiosis |
|
Glossitis, Osteomyelitis, Urethritis, Dehydration, Nephritis |
ORPHA:2552 |
| Hyper-Igd Syndrome |
|
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Juvenile Polyposis Of Infancy |
|
Frontal bossing, High, narrow palate, Clubbing of fingers, Midclavicular hypoplasia, Narrow mouth... |
ORPHA:79076 |
| Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Pedal edema, Vesicoureteral re... |
ORPHA:821 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Pes planus, Abnormal dental morphology, Micrognathia, Abnormal foot mo... |
ORPHA:369950 |
| Oral Submucous Fibrosis |
|
Flexion contracture, Abnormal oral cavity morphology, Cheilitis, Narrow mouth |
ORPHA:357154 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Dyspnea, Exertional dyspnea, 2-3 toe syndactyly, Narrow mouth |
OMIM:616539 |
| Plague |
|
Chapped lip, Edema, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large... |
ORPHA:707 |
| Faciocardiorenal Syndrome |
|
Wide nasal bridge, Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
| Meacham Syndrome |
|
Cryptorchidism, Abnormal lung lobation, Anomalous pulmonary venous return, Aplasia/Hypoplasia of ... |
ORPHA:3097 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Unilateral renal agenesis, Agenesis of canine, Orofacial cleft... |
ORPHA:141099 |
| Glycogen Storage Disease Xii |
|
Low posterior hairline, Short neck |
OMIM:611881 |
| Bilateral Perisylvian Polymicrogyria |
|
Flexion contracture, Micrognathia, Distal arthrogryposis, Protruding tongue |
ORPHA:98889 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Short neck, Micrognathia, Cryptorchidism, Tented philtrum, Long philtrum |
ORPHA:495875 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Glucagonoma |
|
Intestinal obstruction, Steatorrhea, Stomatitis, Ascites, Glossitis |
ORPHA:97280 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
| Craniopharyngioma |
|
Hydrocephalus, Increased susceptibility to fractures |
ORPHA:54595 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus |
OMIM:616084 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Meningioma |
|
Hydrocephalus, Urinary incontinence, Neoplasm of the tongue |
ORPHA:2495 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Micrognathia, Moderate albuminuria, Supernumerary tooth... |
OMIM:619525 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Everted lower lip vermilion, Ventriculomegaly, Micrognathia |
OMIM:253280 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia |
OMIM:256040 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Narrow mouth, Pulmonary arterial ... |
OMIM:606721 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Juvenile Polyposis Syndrome |
|
Spontaneous, recurrent epistaxis, Epistaxis, Pulmonary arteriovenous malformation, Clubbing of fi... |
ORPHA:2929 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Choreoacanthocytosis |
|
Arthritis, Lateral ventricle dilatation, Protruding tongue |
ORPHA:2388 |
| Carney Complex |
|
Neoplasm of the stomach, Testicular neoplasm, Esophageal neoplasm, Testicular adrenal rest tumor,... |
ORPHA:1359 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Juvenile Myoclonic Epilepsy |
|
|
ORPHA:307 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
|
OMIM:617924 |
