Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... |
OMIM:256050 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... |
OMIM:151210 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, M... |
ORPHA:3035 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... |
OMIM:184260 |
Kniest Dysplasia |
|
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abno... |
OMIM:156550 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala... |
OMIM:600920 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... |
OMIM:600561 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion contracture, Femor... |
OMIM:601559 |
Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Knee dislo... |
OMIM:108721 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
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 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... |
OMIM:611369 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... |
OMIM:211350 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Missing rib... |
OMIM:617866 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... |
OMIM:171480 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/Hypoplasia of the fibula, Aplasia/hypopla... |
ORPHA:2141 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... |
OMIM:114290 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn... |
OMIM:616531 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... |
ORPHA:2635 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Joint stiffness, Pectus excavatum, Metatarsus valgus, Micrognathia, Radi... |
ORPHA:1388 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Multiple prenatal fractures, Short neck, Micrognathia, Flexion contractu... |
OMIM:616897 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol... |
ORPHA:1486 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular... |
OMIM:143095 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Campomelic Dysplasia |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... |
ORPHA:85166 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Anis... |
ORPHA:1865 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:277440 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... |
OMIM:268310 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathi... |
OMIM:619135 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Diaphanospondylodysostosis |
|
Respiratory distress, Absent in utero ossification of vertebral bodies, Short neck, Micrognathia,... |
OMIM:608022 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Triangular mouth, Wide nasal bridge, Genu valg... |
ORPHA:166024 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni... |
OMIM:602535 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Micrognathia, Symphalangis... |
ORPHA:628 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:264700 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Abnormal lung lobation, Hemivertebrae, Or... |
ORPHA:958 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos... |
ORPHA:2655 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip... |
ORPHA:166016 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Tarp Syndrome |
|
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted... |
ORPHA:2886 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, High palate... |
ORPHA:93315 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, M... |
ORPHA:96334 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo... |
ORPHA:2563 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat... |
OMIM:241800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan... |
OMIM:207410 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Limitation of joint mobili... |
ORPHA:376 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom... |
ORPHA:294975 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phoco... |
ORPHA:3404 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Shox-Related Short Stature |
|
Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... |
ORPHA:314795 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... |
OMIM:617194 |
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 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Wide nasal bridge, Respiratory... |
OMIM:224410 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Short neck, Micrognathia, Underdeveloped nasal alae, Metaphyseal wid... |
OMIM:263210 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Pectus carinatum... |
OMIM:271665 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge... |
OMIM:618853 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:241530 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Missing ribs, Micromelia, Absent thumb, Absent radius, Humeroradial ... |
OMIM:251230 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Increased bone mineral density, Short met... |
ORPHA:50945 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Single transverse palmar crease, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respirat... |
OMIM:611890 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... |
OMIM:258850 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Micromelia, Postax... |
OMIM:617895 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Long palm, Abnormality of... |
ORPHA:2759 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture... |
OMIM:312150 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Convex nasal ridge, Short neck, Micrognathia, Generalized joint laxi... |
ORPHA:251028 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck... |
OMIM:620369 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Long nose, Bulbous nos... |
OMIM:620113 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, High, narro... |
OMIM:122470 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Tarp Syndrome |
|
Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pec... |
OMIM:311900 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Marden-Walker Syndrome |
|
Arachnodactyly, Anteverted nares, Short neck, Micrognathia, High, narrow palate, Narrow mouth, Py... |
OMIM:248700 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta... |
ORPHA:289157 |
Kagami-Ogata Syndrome |
|
Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Micrognathi... |
OMIM:608149 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Fem... |
OMIM:617022 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downt... |
OMIM:618371 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nas... |
ORPHA:2804 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Depressed nasal... |
OMIM:253290 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia |
OMIM:613124 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Short philtrum, Pulmonary artery atresia, Long toe, Exaggerated cupid's bow, Ante... |
OMIM:618316 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M... |
OMIM:614091 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Short neck, Micrognathia, High palate, Choanal stenosis, Micro... |
OMIM:259775 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Tonne-Kalscheuer Syndrome |
|
Pes planus, Prominent nasal bridge, Convex nasal ridge, Micrognathia, Prominent nose, Velopharyng... |
OMIM:300978 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n... |
OMIM:236500 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Abnormality of the dentition, ... |
ORPHA:1548 |
Three M Syndrome 1 |
|
Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp... |
OMIM:273750 |
Opsismodysplasia |
|
Recurrent respiratory infections, Abnormally ossified vertebrae, Depressed nasal bridge, Joint st... |
ORPHA:2746 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff... |
OMIM:614399 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Wide nasal base, Abnormal form of the vertebral bodies, Pectus cari... |
ORPHA:3134 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... |
ORPHA:2484 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short t... |
ORPHA:93298 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Oligodontia... |
ORPHA:276630 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Trach... |
OMIM:245650 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal... |
OMIM:157980 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor... |
OMIM:276950 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Pectus excavatum, Kyphosis, Achille... |
OMIM:615290 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... |
OMIM:615777 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Hyperlordosis, Pectus excavatum, Abnor... |
ORPHA:2511 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Micrognathia, Long nose, Oligodont... |
OMIM:612313 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly |
ORPHA:1937 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os... |
ORPHA:93299 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Pontocerebellar Hypoplasia, Type 1C |
|
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short ... |
ORPHA:3309 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint laxity, Microretro... |
OMIM:618870 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Pectus excavatum, Carious teeth, Prominent ... |
ORPHA:3270 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Scarf Syndrome |
|
Barrel-shaped chest, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the ... |
OMIM:312830 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Ky... |
OMIM:616482 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Anteverted nares, Depressed nas... |
OMIM:612530 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the ... |
ORPHA:798 |
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 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly o... |
ORPHA:1520 |
Alg3-Cdg |
|
Osteopenia, Abnormality of the nose, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,... |
ORPHA:79321 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... |
ORPHA:266 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e... |
ORPHA:2990 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Pulmonary... |
OMIM:615524 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corner... |
ORPHA:1327 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... |
ORPHA:163654 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation defect, N... |
OMIM:312870 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, A... |
OMIM:618011 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:994 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Dentin... |
OMIM:259440 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Myopathy, Myofibrillar, 8 |
|
Pes planus, Scapular winging, Reduced vital capacity, Spinal rigidity, Pectus excavatum, Distal j... |
OMIM:617258 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... |
OMIM:618975 |
Phocomelia, Schinzel Type |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligod... |
ORPHA:2879 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino... |
OMIM:601163 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow ... |
ORPHA:3015 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... |
OMIM:612651 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Talipes equ... |
ORPHA:453510 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasa... |
ORPHA:666 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Pectus excavatum, Wide nasal bridge, Thin vermilion border, Everted lower lip ve... |
ORPHA:73273 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... |
OMIM:114300 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiect... |
OMIM:241600 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ... |
ORPHA:86822 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Pectus excavatum, Flexion contracture, Respiratory insufficiency, High palate, Scoliosis, Distal ... |
OMIM:609284 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Thin upper lip vermilion, Sandal gap, Dental crowding, Anteverted n... |
OMIM:617877 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Depresse... |
OMIM:617180 |
Cranioectodermal Dysplasia 4 |
|
Smooth philtrum, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumon... |
OMIM:614378 |
Braddock Syndrome |
|
Neonatal respiratory distress, Short neck, Pectus excavatum, Preaxial hand polydactyly, Missing r... |
ORPHA:52047 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon... |
ORPHA:1692 |
Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th... |
ORPHA:1988 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Dysostosis, Stanescu Type |
|
Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta... |
ORPHA:1798 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abn... |
ORPHA:166100 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,... |
ORPHA:79345 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Grant Syndrome |
|
Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal rib morpholog... |
ORPHA:2097 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten... |
ORPHA:156728 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... |
ORPHA:949 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di... |
ORPHA:1513 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Micrognathi... |
ORPHA:85201 |
Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... |
OMIM:265900 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi... |
ORPHA:2167 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint hyperflexibility, Everted lower lip... |
ORPHA:1695 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Missing ribs, Short neck, Hyperlordosis, Abno... |
ORPHA:1797 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Depressed nasal ridge,... |
ORPHA:1832 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... |
ORPHA:171430 |
Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Respiratory failure, Spinal rigidity |
OMIM:604801 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... |
ORPHA:85198 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica... |
OMIM:122860 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... |
ORPHA:536516 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Short neck, Pectus excavatum, Hyperlord... |
ORPHA:2522 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Broad hallux, Exaggerated cupid's bow, Tapered finger, Short toe, Patent ductus art... |
OMIM:618659 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... |
OMIM:618363 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda... |
OMIM:615503 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hamartoma of tongue, P... |
OMIM:263520 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys... |
ORPHA:1952 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Wide nasal bridge, High... |
OMIM:618393 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ... |
ORPHA:1837 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus exc... |
OMIM:618272 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ... |
ORPHA:192 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne... |
ORPHA:2257 |
Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Tapered finger, Pectus excavatum, Long fingers,... |
OMIM:609425 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Mucopolysaccharidosis Type 4 |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, Abnormal dental ena... |
ORPHA:582 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos... |
OMIM:145420 |
Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology,... |
ORPHA:3242 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Stickler Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depressed nasal brid... |
OMIM:108300 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid... |
OMIM:275210 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... |
ORPHA:79106 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Flexion contr... |
ORPHA:314588 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ... |
OMIM:619131 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mes... |
ORPHA:672 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Tapered finger, Pectus excavatum, Short neck, Broad nasal tip, Recurrent u... |
ORPHA:284180 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
Mosaic Trisomy 14 |
|
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Short neck, Micrognathia, Lowe... |
ORPHA:1703 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... |
ORPHA:1860 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Short neck, Pectus excavatum... |
ORPHA:1716 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin... |
ORPHA:2437 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Pectus excavatum, Short neck, Trian... |
OMIM:607131 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Multiple joint contractures, Abnormality of the tongue muscle, Hi... |
ORPHA:370968 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S... |
OMIM:166250 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho... |
OMIM:214100 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Abnormality of the dentition, Pectus ex... |
ORPHA:776 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Antev... |
ORPHA:2311 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Single tra... |
OMIM:618291 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Neonatal death, Arthrogryposis mu... |
OMIM:253310 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Pectus excavatum, Gingival overgrowth, High palate, Lumbar kyphoscoliosis, Death in childhood, Cl... |
OMIM:619422 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Micromelia, Kyphosis, Patent ductus arteriosus, Short thorax, Limitation ... |
ORPHA:93274 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Cleft palate, Shor... |
OMIM:257300 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ... |
ORPHA:2643 |
Achondrogenesis |
|
Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short t... |
ORPHA:932 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca... |
ORPHA:2970 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st... |
OMIM:222448 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Blount Disease, Adolescent |
|
Genu varum, Bowing of the legs |
OMIM:259200 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
OMIM:617602 |
Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Joint stiffness, Pectus excavatu... |
ORPHA:1707 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho... |
ORPHA:2013 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Respiratory insufficiency, High palate, Pulmonary... |
OMIM:255320 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Talipes, Postaxial pol... |
OMIM:619879 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint contracture, Joint laxity, Respiratory insufficiency, Increased susceptibility ... |
OMIM:615349 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... |
OMIM:224690 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Typical Nemaline Myopathy |
|
Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Spin... |
ORPHA:171436 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl... |
ORPHA:3219 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,... |
OMIM:179613 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Tapered finger, Pectus excavatum, Downturned corners of mouth, High palate, Short philtrum, Cubit... |
ORPHA:85280 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep... |
OMIM:617808 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... |
ORPHA:1120 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morpholo... |
ORPHA:163665 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con... |
OMIM:616867 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Syndactyly, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion... |
OMIM:619694 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Cu... |
OMIM:269300 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... |
OMIM:615633 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form o... |
ORPHA:73230 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Reduced forced expiratory volu... |
OMIM:108145 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv... |
OMIM:617425 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Pectus excavatum, Perianal abscess, Small hand, Wide nasal bridge, Pect... |
OMIM:614684 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Aspergillosis |
|
Chronic lung disease, Osteomyelitis, Sinusitis, Pneumonia, Hypersensitivity pneumonitis, Dyspnea,... |
ORPHA:1163 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flex... |
ORPHA:800 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Joint laxity, High palate, Pectus excavatum, Lumbar scoliosis |
OMIM:619548 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Thenar muscle atrophy, Pectus e... |
ORPHA:2463 |
Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodactyly of the 5th f... |
ORPHA:96167 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short neck, Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... |
ORPHA:391408 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Underdeveloped n... |
ORPHA:77300 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, S... |
OMIM:613385 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... |
ORPHA:85184 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Metatarsus valg... |
ORPHA:3082 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Spinal rigidity, Pec... |
ORPHA:486815 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormality of the cervical spine, Single transverse palmar crease, Abnormality of th... |
ORPHA:1708 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Pectus excavatum, Microdontia, Depressed nasal bridge, Abnormal palate morphology |
ORPHA:1375 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:881 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala... |
OMIM:300373 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... |
OMIM:235510 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr... |
ORPHA:166272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Shor... |
ORPHA:2059 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Macs Syndrome |
|
Joint laxity, Irregular dentition, Pes planus, Single transverse palmar crease, Micrognathia, Pec... |
OMIM:613075 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, ... |
OMIM:241500 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse... |
ORPHA:2021 |
Pentalogy Of Cantrell |
|
Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Orofacial cleft, Cleft pal... |
ORPHA:1335 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar... |
ORPHA:2780 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... |
ORPHA:2215 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... |
OMIM:305620 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi... |
OMIM:614524 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L... |
ORPHA:2204 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn... |
ORPHA:2319 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... |
OMIM:616331 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Prominent nose, Osteoporosis, Finger clinodactyly, Patel... |
ORPHA:2958 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, R... |
ORPHA:583 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage |
ORPHA:2867 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Pectus excavatum, Carious teeth, Deep ... |
ORPHA:2701 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Distal Monosomy 7Q36 |
|
Short neck, Pectus excavatum, Micrognathia, Non-midline cleft lip, Bulbous nose, Cleft palate, Sy... |
ORPHA:1636 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Thoracolumbar kyphosc... |
OMIM:212066 |
Orofaciodigital Syndrome Type 10 |
|
Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Micrognathia, Depressed nasal ridge, Respiratory insufficiency, Aplasia/Hypoplasia of... |
ORPHA:1046 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Arthrogryposis multi... |
OMIM:601809 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Talipes, Spinal rigidity,... |
OMIM:620351 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Bifid uvula, Os... |
ORPHA:2671 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, ... |
ORPHA:79328 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of... |
ORPHA:2462 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd... |
OMIM:618186 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflamm... |
OMIM:619708 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Thin upper lip... |
OMIM:616503 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Narr... |
OMIM:202650 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala... |
ORPHA:163649 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Widely spaced teeth, Clinodactyl... |
OMIM:619092 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Pectus excavatum, Bulbous nose, Patent ductus arteriosus, Oligodontia, ... |
OMIM:618330 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus excavatum, Open bite, Kyphosis, Prominent nose, Denta... |
ORPHA:2471 |
Renal Tubular Dysgenesis |
|
Joint hyperflexibility, Pulmonary hypoplasia, Bilateral single transverse palmar creases |
ORPHA:3033 |
Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n... |
OMIM:229850 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Missing ribs, Micrognathia,... |
ORPHA:3301 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... |
OMIM:213980 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal lung lobation, Abnormal form of t... |
ORPHA:818 |
Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, Tapered finger, Pectus excavatum, High, narrow palate, Hypoplasia of teet... |
ORPHA:3010 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Depressed nasal bridge, Kyphoscoliosis, Pectus excavatu... |
OMIM:612513 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Scoli... |
ORPHA:2590 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Thin upper lip vermilion,... |
OMIM:300534 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys... |
OMIM:616294 |
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 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... |
ORPHA:3258 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Microgna... |
OMIM:613177 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Pectus excavatum, Kyphosis, Hypoplasia ... |
OMIM:300676 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Prominent ... |
OMIM:609625 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal... |
ORPHA:2063 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... |
OMIM:215150 |
Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Short neck, Mic... |
ORPHA:2570 |
Cooper-Jabs Syndrome |
|
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal ri... |
ORPHA:1488 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl... |
OMIM:222765 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Wide nose, Short neck, Pectus excavatum, ... |
OMIM:617303 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... |
OMIM:612921 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Promin... |
ORPHA:2636 |
Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... |
ORPHA:2876 |
Monosomy 18P |
|
Kyphoscoliosis, Short neck, Pectus excavatum, Carious teeth, Micrognathia, Wide nasal bridge, Cle... |
ORPHA:1598 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... |
ORPHA:96148 |
Christianson Syndrome |
|
Mandibular prognathia, Death in early adulthood, Abnormality of the nose, Pectus excavatum, Abnor... |
ORPHA:85278 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, ... |
OMIM:614080 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Wide nasal bridge, Orofacial cleft, Respiratory failure, High pal... |
OMIM:618804 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, High palate, Narrow chest, Widely spaced te... |
OMIM:218330 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelec... |
ORPHA:896 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Pectus exca... |
OMIM:612940 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Thin upper lip vermilion, Kyphosis |
OMIM:609384 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Clinodactyly, Aspiration, Abnormal vertebral morphology, Barret... |
ORPHA:1199 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Neonatal respiratory distress, Miscarriage, Preaxial hand polydactyly, Respiratory in... |
ORPHA:96179 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Aplasia of the pectoralis major muscle, Abnormal carpal morphology, Finger cl... |
OMIM:142900 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement... |
OMIM:617809 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Aplastic clavicle, Micromelia, Postaxial polydactyly, Accessory oral fren... |
OMIM:616546 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Short neck, Micrognathia, Abnormal rib morphology, Gingiva... |
ORPHA:1834 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
X-Linked Intellectual Disability, Abidi Type |
|
Prominent nasal bridge, Pectus excavatum, Non-midline cleft lip, Cleft palate, Scoliosis |
ORPHA:85273 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu... |
OMIM:616229 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont... |
ORPHA:2020 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Trisomy X |
|
Pectus excavatum, Joint hyperflexibility, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:3375 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig... |
OMIM:616817 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Pectus excavat... |
OMIM:616362 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec... |
ORPHA:496641 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow... |
ORPHA:254528 |
2P15P16.1 Microdeletion Syndrome |
|
Enlarged thorax, High palate, Bilateral single transverse palmar creases, Tapered finger, Wide na... |
ORPHA:261349 |
Fragile X Syndrome |
|
Joint laxity, Mandibular prognathia, Pes planus, Pectus excavatum, Scoliosis, Metacarpophalangeal... |
OMIM:300624 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Short palm... |
ORPHA:93271 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Delayed eruption of teeth, Congenital hip disloca... |
ORPHA:2962 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Amelia inv... |
ORPHA:1027 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma... |
ORPHA:2633 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Pes planus, Down-sloping shoulders, Single transverse palmar crease, Mic... |
OMIM:616200 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Pes planus, Hyperextensibility of the knee, Pectus excav... |
OMIM:130000 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal vertebral morphology, Death in infancy, Anteve... |
ORPHA:93473 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi... |
ORPHA:96169 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Recurrent respiratory infections, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosy... |
ORPHA:369837 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Pectus excavatum, ... |
OMIM:618590 |
Allan-Herndon-Dudley Syndrome |
|
Hallux valgus, Pes planus, Pectus excavatum, Flexion contracture, Scoliosis |
OMIM:300523 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlappin... |
ORPHA:83617 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Spinal canal stenosis, Anteriorl... |
OMIM:618624 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the ... |
OMIM:614701 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T... |
OMIM:300863 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken... |
ORPHA:309282 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arte... |
OMIM:616866 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Bulbous nose, 2... |
OMIM:620025 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... |
OMIM:118651 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Co... |
ORPHA:3305 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... |
OMIM:615582 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ... |
OMIM:616505 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Glosso... |
OMIM:611209 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... |
ORPHA:250999 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Missing r... |
OMIM:613686 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Th... |
OMIM:618395 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Pectus excavat... |
ORPHA:1786 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Apne... |
OMIM:608013 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Depressed nasal bridge, Sagittal craniosyn... |
OMIM:618027 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Abnormality of the... |
OMIM:617952 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal... |
ORPHA:957 |
16P11.2P12.2 Microduplication Syndrome |
|
Pectus excavatum, Cleft palate |
ORPHA:261204 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi... |
OMIM:612289 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p... |
OMIM:300484 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... |
OMIM:268850 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia |
OMIM:616733 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, P... |
OMIM:263750 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Tapered finger, Pectus excavatum, Short neck, Micrognathia, Wi... |
ORPHA:1438 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Spinal rigidity, Pectus excavatum, Reduced forced vital capacity, Respiratory insuf... |
OMIM:617066 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... |
OMIM:210600 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Pectus excavatum, Hamartoma of to... |
OMIM:258860 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri... |
OMIM:606612 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Pectus excavatum, Diastema... |
ORPHA:329224 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Synovitis, Hyperextensi... |
OMIM:601492 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Antevert... |
OMIM:618529 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single tran... |
ORPHA:508488 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... |
ORPHA:2639 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull... |
ORPHA:1662 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Dental crowding, Kyphoscoliosis, Pectus excavatum, Limitation of joint mobility, ... |
OMIM:236200 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o... |
ORPHA:2475 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft h... |
OMIM:619122 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Intestinal malrotation, Pectus excavatum, Patent ductus arteriosus... |
ORPHA:2847 |
Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Short neck, Micrognathia, Deep philtrum, Short philtrum, High ... |
OMIM:300855 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo... |
ORPHA:536532 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Dental crowding, Abnormality of the hand, Tapered finger, Pectus excavatum, Unilatera... |
ORPHA:476126 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... |
ORPHA:1517 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Femoral bowing, Stillbirth, Talipes equinovarus, Pulmonary hypoplasia, Tr... |
OMIM:615415 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, P... |
ORPHA:3342 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... |
OMIM:618348 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Depress... |
OMIM:612582 |
Malan Overgrowth Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Slender long bone, High palate, Scoliosis, Narrow mouth |
ORPHA:420179 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, ... |
OMIM:119600 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio... |
ORPHA:3412 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna... |
ORPHA:1596 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... |
ORPHA:2554 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Genu recurvatum, Pes planus, Sandal gap, Recurrent shoulder dislocation, Dental cr... |
ORPHA:230851 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Recurrent respiratory infections, Pectus excavatum, Cleft palate, High palate, Tooth malposition |
OMIM:618603 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr... |
OMIM:606071 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Tapered finger, Pectus excavatum, Abnormality of the den... |
ORPHA:65286 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Narrow nasal bri... |
OMIM:309520 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ... |
ORPHA:198 |
Boudin-Mortier Syndrome |
|
Joint laxity, Mallet finger, Long toe, Pes planus, Arachnodactyly, Pectus excavatum, Long fingers... |
OMIM:619543 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Thin ribs, High palate, Neonatal death, Retr... |
OMIM:300219 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Joint stiffness, Pectus excavatum, Deviation of finger, Bilateral talipes equinov... |
ORPHA:1154 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Anteverted nares, Depressed nasal bridge, Tapered finger, Pectus excava... |
OMIM:620224 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Aplasia/Hypoplasia of the... |
OMIM:613803 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia, Prominent sternum, Pulmonary hypoplasia |
ORPHA:2140 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Bulbo... |
OMIM:618571 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Rec... |
OMIM:620249 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse... |
ORPHA:2834 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l... |
OMIM:619194 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity |
OMIM:620326 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose,... |
OMIM:201170 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High p... |
OMIM:616145 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavatum,... |
OMIM:618162 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon... |
OMIM:310200 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... |
ORPHA:3144 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Knee contractu... |
OMIM:620278 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Occipital Horn Syndrome |
|
Pectus carinatum, High palate, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hia... |
OMIM:304150 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Ante... |
OMIM:611174 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, High, narrow palate, Abnormal thorax morphology, Flexion contracture... |
ORPHA:171433 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Prominent nasal bridge, Hyperlordosis, Limitation of joint mobility, A... |
ORPHA:3068 |
Koolen-De Vries Syndrome |
|
Positional foot deformity, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral ... |
OMIM:610443 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... |
OMIM:164745 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca... |
ORPHA:558 |
Tetrasomy 9P |
|
Dental crowding, Short neck, Micrognathia, Downturned corners of mouth, High palate, Short philtr... |
ORPHA:3310 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Dental crowding, Pectus excavatum, Kyphosis, Low hanging colume... |
ORPHA:79329 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Short neck, Pectus excavatum, Long fingers, High, na... |
ORPHA:96092 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Arachnodactyly, Depresse... |
OMIM:201750 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Arachnodactyly, Convex nasal ridge, Hiatus hernia, Pectus excavatum, Micrognathia, ... |
OMIM:208050 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,... |
ORPHA:247262 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Thin upper lip vermilion, Micrognathia, Pectus excavatum, Bulbous nose, Thick lowe... |
OMIM:614104 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Sandal gap, Micrognathia, Pectus excavatum, Narrow mouth, Small hand, W... |
OMIM:270450 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Recurrent... |
ORPHA:2314 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short... |
OMIM:620306 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Butterfly vertebral arch, Micrognathia, Long nose, Abnormal rib morpholog... |
ORPHA:52 |
Craniofrontonasal Syndrome |
|
Short neck, Coronal craniosynostosis, Clinodactyly of the 5th finger, Joint laxity, Broad hallux,... |
OMIM:304110 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Pyruvate Dehydrogenase Deficiency |
|
Pectus excavatum, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Wi... |
ORPHA:765 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans... |
OMIM:180849 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Spontaneous pneumothorax, Pectus excavatum, Chronic pulmonary obstruction, Arthritis, High palate... |
OMIM:619825 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Wide anterior fontanel |
OMIM:618240 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Pes planus, Broad uvula, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltra... |
OMIM:614816 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of... |
OMIM:618505 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Abnormal morphology of uln... |
ORPHA:1307 |
Meckel Syndrome, Type 1 |
|
Short neck, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus... |
OMIM:249000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Pes planus, Pectus excavatum, Distal joi... |
ORPHA:1900 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Arachnodactyly, Prominent ... |
OMIM:616914 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Triceps weakness, Weakness of long fi... |
ORPHA:98913 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
Mosaic Trisomy 8 |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Short neck, Micrognathia, Broad nasal tip, ... |
ORPHA:96061 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... |
ORPHA:1318 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Thoracic scoliosis, Bilateral cleft lip, Short neck, Pectus excavatum, Shield chest |
OMIM:616994 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal... |
ORPHA:70587 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Short neck, Pectu... |
ORPHA:488632 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Arachnodactyly, Craniosynostosis, Pectus excavatum, Joint hyperflexibility, Hand poly... |
ORPHA:261243 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, P... |
ORPHA:85202 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P... |
OMIM:227330 |
20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pectus excav... |
ORPHA:363659 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Choanal atresia, Short neck, Pectus excavatum, Prominent nasal bridge, P... |
OMIM:300472 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Congenital Myopathy 24 |
|
Scapular winging, Reduced vital capacity, Pectus excavatum, High palate, Talipes equinovarus, Pes... |
OMIM:617336 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Dyspnea, Wide... |
ORPHA:2707 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplas... |
OMIM:200995 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridg... |
OMIM:256520 |
Frontoocular Syndrome |
|
Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Narrow mout... |
OMIM:605321 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure |
ORPHA:168486 |
Xq12-Q13.3 Duplication Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Recurrent upper respiratory tract infections, 2-3 toe s... |
ORPHA:314389 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... |
OMIM:613610 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co... |
ORPHA:98905 |
Alg1-Cdg |
|
Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
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 |
Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... |
ORPHA:449280 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Hip dislocation, Talipes equino... |
OMIM:219150 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening ... |
OMIM:146510 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato... |
ORPHA:2771 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Noonan Syndrome 14 |
|
Pes planus, Scapular winging, Prominent nasal bridge, Short neck, Pectus excavatum, High, narrow ... |
OMIM:619745 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Thin upper lip vermilion, Sacral dimple, Microretrognathia, Anteverted nares, Short n... |
OMIM:300966 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Bro... |
OMIM:272950 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Microdontia, B... |
OMIM:613458 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Legius Syndrome |
|
Micrognathia, Pectus excavatum, High, narrow palate, Short neck, High palate |
OMIM:611431 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Pec... |
OMIM:115150 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, ... |
ORPHA:500150 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large han... |
ORPHA:500095 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... |
ORPHA:251014 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Dow... |
OMIM:619297 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, High pala... |
ORPHA:96170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Pectus excavatum, Pectus carinatum, Short philtrum, Talipes equinov... |
OMIM:301039 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Pectus excavatum, Asthma, High palate, Narrow chest, Clinodact... |
OMIM:620237 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... |
OMIM:618265 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, M... |
OMIM:269500 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology |
ORPHA:2233 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Pectus carinatum, H... |
ORPHA:79255 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Marfan Syndrome |
|
Dental crowding, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Narrow fo... |
OMIM:154700 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Palm... |
ORPHA:77301 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Cleft upper lip, Pectus excavatum, Short neck, Cleft palate... |
OMIM:609654 |
Monosomy 18Q |
|
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Downturned corners of mou... |
ORPHA:1600 |
Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micromelia, Micro... |
ORPHA:35107 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... |
ORPHA:508498 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tr... |
OMIM:619227 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Emphysem... |
ORPHA:289 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Non-midlin... |
ORPHA:887 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Anteverted nares, Depressed nasal bridge, Genu re... |
OMIM:617301 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pes planus, Cleft upper lip, Pectus excavatum, Anosmia, Cleft palate, Finger joint hypermobility,... |
OMIM:244200 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced... |
ORPHA:935 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Pectus excav... |
OMIM:606851 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned... |
OMIM:619950 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, W... |
OMIM:619698 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Long thorax, Short phil... |
OMIM:616268 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturn... |
OMIM:617140 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, At... |
ORPHA:258 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation, Emphysema |
ORPHA:171719 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Pulmonary hypoplasia, Neona... |
OMIM:231680 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Joint stiffness, Pectus excavatum, Micrognathia, Abnormal thorax morphology, Flexion ... |
ORPHA:1979 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Ver... |
OMIM:109400 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Apnea, Rec... |
ORPHA:667 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... |
ORPHA:534 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Pes planus, Abnormal morphology of ulna,... |
ORPHA:93 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Pectus excavatum, Coxa va... |
OMIM:231050 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Long clavicles, Pectus excavatum, Patent ductus arteriosus, Limitation of joint mobil... |
OMIM:259100 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... |
ORPHA:1194 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Narrow chest, Widely spaced teeth, Mic... |
OMIM:618268 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Pectus... |
OMIM:218040 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Mandibular prognathia, Single transverse palmar crease, Micrognath... |
OMIM:150230 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ... |
OMIM:615330 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Depressed nasal ridge, Respiratory failure, Narrow chest, Limb undergrowth, Abnormal metaphysis m... |
ORPHA:1861 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High... |
ORPHA:2751 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Ulnar deviation of the wrist, Anteverted nares, Depressed nasal... |
ORPHA:97297 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Patellar aplasia... |
OMIM:613804 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate, Postaxial foot pol... |
OMIM:612284 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... |
ORPHA:2549 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Pectus carinatum, High palate, Short philtrum, Long toe, ... |
ORPHA:3063 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Missing ribs, Pectus ... |
OMIM:147791 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Pectus excavatum, Kyphosis, Micro... |
OMIM:130720 |
Shukla-Vernon Syndrome |
|
Pectus excavatum, Long fingers, Wide nasal base, Tapered finger |
OMIM:301029 |
Noonan Syndrome |
|
Micrognathia, Pectus excavatum, Pulmonary artery stenosis, Thick lower lip vermilion, Pectus cari... |
ORPHA:648 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... |
ORPHA:95699 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Anteriorly pl... |
ORPHA:1299 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad na... |
OMIM:258865 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Cleft ala nasi, Dental crow... |
OMIM:219000 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification... |
OMIM:259410 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Nodular pattern on pulmonary HRCT, Abnormality of ... |
ORPHA:333 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c... |
ORPHA:60025 |
Omodysplasia 1 |
|
Short neck, Micrognathia, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame... |
OMIM:258315 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Pectus excavatum, High palate, Arachnodactyly, Pectus carinatum |
OMIM:616166 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Calf muscle hyp... |
ORPHA:254361 |
Fraser Syndrome |
|
Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Vertebral segmentation ... |
ORPHA:2052 |
Noonan Syndrome 11 |
|
Depressed nasal bridge, Pectus excavatum, Bulbous nose, Thick vermilion border, Palmoplantar cuti... |
OMIM:618499 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Pectus excavatum, Metatarsus a... |
ORPHA:2461 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... |
OMIM:244460 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Bronchogenic Cyst |
|
Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, At... |
ORPHA:2357 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... |
ORPHA:3042 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplas... |
OMIM:601186 |
Mosaic Trisomy 9 |
|
Micromelia, Short neck, Micrognathia, Abnormal lung lobation, Hemivertebrae, Finger clinodactyly,... |
ORPHA:99776 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver... |
ORPHA:370930 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Deep palmar... |
OMIM:613706 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Prominent nasal bridge, Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Ra... |
OMIM:609944 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de... |
ORPHA:263508 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Broad nasal tip, Small hand, Abnormal rib morphology, Retrognathia, Broad... |
ORPHA:488434 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc... |
ORPHA:98863 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:394 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal ridge, Tracheoesophageal fistu... |
ORPHA:1848 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Oste... |
OMIM:616507 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectu... |
ORPHA:357001 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... |
OMIM:607143 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Short neck, Pectus excavatum, Long fingers, Micrognathia, Cleft palate, H... |
OMIM:156610 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,... |
OMIM:610442 |
X-Linked Mandibulofacial Dysostosis |
|
Prominent nasal bridge, Micrognathia, Pectus excavatum, Branchial anomaly, High palate, Hypoplasi... |
ORPHA:1131 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... |
ORPHA:373 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Short neck, Pectus excavatum, Deep philtr... |
OMIM:613563 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of th... |
OMIM:277600 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Pectus excavatum, Flexion contracture, Camptodactyly of finger |
ORPHA:272 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Edema of... |
OMIM:601803 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Short femur, Anteverted nares, Recurrent fractures, Metaphyseal... |
OMIM:618188 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge... |
OMIM:614437 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif... |
ORPHA:1300 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectus excavatum, Abnormal... |
ORPHA:1812 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... |
OMIM:619472 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Depressed ... |
ORPHA:261344 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... |
OMIM:619638 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Pectus excavat... |
ORPHA:1340 |
Cardiofaciocutaneous Syndrome 3 |
|
Short neck, Pectus excavatum, Reduced bone mineral density, Wide mouth, Scoliosis |
OMIM:615279 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc... |
ORPHA:98853 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent lower respiratory tract infections |
OMIM:620321 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Pes planus, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity |
OMIM:225320 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae,... |
ORPHA:96121 |
Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, High palate, Abnormal duodenum morphology, Joint laxity, Microretrognat... |
OMIM:601776 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Pectus excavatum, Emphysema |
OMIM:219100 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Thin upper lip vermilion, Depressed nasal bridge, Rocker bo... |
OMIM:601353 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... |
OMIM:608836 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn... |
OMIM:618779 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Ge... |
ORPHA:221016 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo... |
ORPHA:581 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... |
OMIM:130070 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Anteverted nares, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Midline... |
ORPHA:1969 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Peripheral pulmonary vessel aplasia... |
OMIM:273395 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Short neck, Pectus excavatum, High, narrow palate, Hy... |
ORPHA:2789 |
Renal Hypodysplasia/Aplasia 1 |
|
Talipes equinovarus, Retrognathia, Pulmonary hypoplasia |
OMIM:191830 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc... |
ORPHA:98855 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cleft hard palate, Bif... |
OMIM:619314 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o... |
OMIM:259720 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Pectus carinatum, Knee dislocation, Shoulde... |
ORPHA:536545 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Pectus excavatum, Patent ductus a... |
OMIM:104350 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Promi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Promi... |
ORPHA:363958 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Tachypnea, Rickets, Abnormal ... |
OMIM:613658 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Pectus excavatum, Flexion contracture, Calf muscle hyper... |
OMIM:611588 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Pectus carinatum, Scoliosis, Toe clinodactyly, Clinodactyly of ... |
OMIM:619910 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... |
ORPHA:261236 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of t... |
OMIM:280000 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, De... |
OMIM:300990 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... |
OMIM:312170 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of... |
OMIM:164210 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Mitral Valve Prolapse 1 |
|
Pectus excavatum, High, narrow palate, Reversed usual vertebral column curves, High palate |
OMIM:157700 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... |
OMIM:604757 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo... |
OMIM:612387 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Deep palm... |
ORPHA:293725 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... |
OMIM:604320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mo... |
OMIM:300868 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Sh... |
OMIM:619841 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior... |
OMIM:607812 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenoc... |
OMIM:618913 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Prominent nose, Delayed ep... |
OMIM:210710 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Pectus excavatum, Bifid nasal tip, Bilateral cleft lip and palate, High... |
OMIM:618874 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Choanal atresia, Prominent nasal bridge, Short neck, Pectus excavatum, Patent ductus arteriosus, ... |
ORPHA:52055 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Prominent nose,... |
OMIM:612474 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Single naris, Bell-shaped thorax, Respiratory failure, Pulmonary hypoplasia, Shor... |
OMIM:615636 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Pectus excavatum, Increased vertebral height, High palate, Scoliosis, Camptodacty... |
OMIM:610474 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia, Orofacial cleft |
ORPHA:139466 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Depressed nasal brid... |
OMIM:309590 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the... |
ORPHA:313855 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... |
ORPHA:828 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov... |
OMIM:252930 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Pectus excavatum, Pyloric ste... |
ORPHA:314575 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Pectus excavatum, Wide nasal bridge, Cl... |
OMIM:201180 |
Adult-Onset Still Disease |
|
Cartilage destruction, Recurrent pharyngitis, Arthritis, Restrictive ventilatory defect, Pleuritis |
ORPHA:829 |
C Syndrome |
|
Micromelia, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Bilateral sing... |
ORPHA:1308 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Sacral dimple, Rhizomelia, Abnormality ... |
ORPHA:319182 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Sandal gap, Anteverted nares, Depressed nasa... |
OMIM:616835 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Thin upper lip vermilion, Wide nose, Joint hypermobility, Craniosynostosis, Shor... |
OMIM:617506 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Xerostomia, Pectus carina... |
OMIM:100100 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Pectus excavatum, High palate |
OMIM:245349 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Pes planus, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Promin... |
OMIM:601552 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul... |
OMIM:619479 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Short neck, Pectus excavatum, Denta... |
OMIM:610733 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli... |
ORPHA:158687 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... |
OMIM:102500 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Depressed nasal bridge, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardior... |
ORPHA:26791 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Limited elbow movement, Joint stiffness, Micrognathia, Dyspne... |
OMIM:614008 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, ... |
OMIM:162300 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Cleft palate, Abnormal curvature of the vertebral column, Downturned ... |
ORPHA:168572 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me... |
OMIM:608328 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Depressed nasal bridge, Micrognathia, Pectus excavatum, Split hand, Hammertoe, High p... |
OMIM:261515 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High p... |
OMIM:266920 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Pectus e... |
OMIM:601088 |
Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Kyphoscoliosis, Short neck, Micrognathia, High, narrow pala... |
OMIM:163950 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, High, narrow palate, Abnormal 5th finger morp... |
ORPHA:1439 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... |
OMIM:614976 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... |
OMIM:126550 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pes planus, Micrognathia, Pectus excavatum, Dyspnea, Patent ductus arteriosus, Thick lower lip ve... |
ORPHA:555877 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Pulmonary hypoplasia, Scoliosis, Camptodactyly... |
ORPHA:86309 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... |
ORPHA:365 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... |
OMIM:612301 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Proximal Xq28 Duplication Syndrome |
|
Pectus excavatum, Tented upper lip vermilion, Everted lower lip vermilion, Joint stiffness |
ORPHA:1762 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Sweeney-Cox Syndrome |
|
Micrognathia, High palate, Narrow chest, Short philtrum, 2-5 toe syndactyly, Median cleft palate,... |
OMIM:617746 |
Holoprosencephaly |
|
Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the vertebral bodies, Absent n... |
ORPHA:2162 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Pectus excavatum, Spina bifida occulta, Wide nasal bridge, Pectus carinatum, Sc... |
ORPHA:500 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252900 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Abnormality of the dentiti... |
ORPHA:261112 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Pectus excavatum, Achilles tendon contracture, Elbow flexion contracture, Knee flexion contractur... |
OMIM:310300 |
Schilbach-Rott Syndrome |
|
Micrognathia, Prominent nose, Long nose, 2-3 toe cutaneous syndactyly, Submucous cleft hard palat... |
OMIM:164220 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Kyphoscoliosis, Pectus excavatum, Cleft palate, Clinodactyly, Brachydactyly |
OMIM:616954 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Delayed eruption of teet... |
ORPHA:2909 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... |
OMIM:261540 |
Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, High palate, Scoliosis,... |
OMIM:616564 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3... |
OMIM:617164 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252920 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Micrognathia, Short neck, ... |
ORPHA:2282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Depressed nasal bridge, Malar flattening, Tapered finger, Hyperlordosis, Cleft lip, H... |
OMIM:301066 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Narrow foot, High palate, Short philtrum, Death in childhood... |
OMIM:309500 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Single transverse palmar crease, Supernumerary tooth, Submucous cleft har... |
OMIM:617412 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, ... |
OMIM:151100 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Widely-spaced maxillary ... |
OMIM:148050 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal lung lobation, Short philtrum, Arachnodactyly, Abnormal dental... |
ORPHA:567 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Loeys-Dietz Syndrome |
|
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excav... |
ORPHA:60030 |
Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormal foot morphology... |
ORPHA:1666 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco... |
ORPHA:3426 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... |
OMIM:304050 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Allan-Herndon-Dudley Syndrome |
|
Pes planus, Kyphoscoliosis, Pectus excavatum, Flexion contracture, Ankle clonus, Pes valgus |
ORPHA:59 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Delayed eruption of teeth, Pla... |
ORPHA:221008 |
Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Arachnodactyly, Micrognathia, Long fingers, High, narrow... |
ORPHA:284979 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmopl... |
OMIM:615108 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Kagami-Ogata Syndrome |
|
Pursed lips, Respiratory failure requiring assisted ventilation, Anteverted nares, Depressed nasa... |
ORPHA:254519 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme... |
ORPHA:904 |
Cap Myopathy |
|
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, Pectus excavatum, ... |
ORPHA:171881 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Rib fusion, Cleft palate, Hand polydactyly, Sco... |
ORPHA:261197 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Pectus excavatum, Broad nasal tip, Wide... |
OMIM:618548 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Downturned corners of mouth, W... |
ORPHA:199 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Malabsorption, P... |
ORPHA:565 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... |
ORPHA:2673 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary... |
OMIM:611812 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmopl... |
OMIM:615109 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory ... |
OMIM:617088 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Pectus excavatum, High, narrow palate, Hypoplasia... |
ORPHA:1101 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognathia, Abnormal tibia morpholo... |
ORPHA:363700 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Anteverted nares, Broad femoral neck, Increased... |
OMIM:619727 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Joint laxity, Anteverted nares, Depressed nasal bridge, Short thumb, S... |
OMIM:619325 |
Fibromuscular Dysplasia, Multifocal |
|
Pes planus, Dental crowding, Narrow nose, Hiatus hernia, Pectus excavatum, Micrognathia, High pal... |
OMIM:619329 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow movement, C... |
OMIM:265050 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra... |
OMIM:601076 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Scoliosis |
OMIM:615066 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nose, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contractu... |
ORPHA:217085 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure |
OMIM:607598 |
Hydrolethalus |
|
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft... |
ORPHA:2189 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Depressed na... |
ORPHA:647 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint l... |
ORPHA:357074 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the ... |
OMIM:607872 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, Anteverted nares, High, narrow palate... |
OMIM:612863 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... |
OMIM:118100 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Cleft soft palate, Prominent nasal bridge, Tapered finger, Pectus e... |
ORPHA:268261 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De... |
ORPHA:99742 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Tapered finger, Pectus excavatum, L... |
OMIM:616734 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso... |
OMIM:605274 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nose, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contractu... |
ORPHA:217093 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal fingertip morphology, Abnormal ... |
ORPHA:79404 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Narrow nasal tip, Pro... |
ORPHA:464306 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hiatus hernia, Pectus excavatum, Narrow mouth, Micrognathia, Hip dislocation, Hig... |
OMIM:617729 |
Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Scoliosis, Pectus excavatum, Palmoplantar hyperkeratosis |
OMIM:615280 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Clinodactyl... |
OMIM:620183 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, Pectus excavatum, Generalized joint laxity, High palate, Scoliosis, Pes cavus |
ORPHA:502423 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Esophageal a... |
OMIM:619859 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... |
OMIM:236700 |
Reactive Arthritis |
|
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Respiratory in... |
ORPHA:29207 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Narrow nasal bridge, Pes planus, Dental crowding, Kyphoscoliosis, Pr... |
OMIM:300967 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Anteverted nares, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Scoliosis... |
ORPHA:457284 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Tyshchenko Syndrome |
|
Pectus excavatum, High, narrow palate, Narrow palate, Cleft palate, High palate, Narrow chest |
OMIM:615102 |
Noonan Syndrome 6 |
|
Depressed nasal bridge, Short neck, Pectus excavatum, Wide nasal bridge, Abnormal sternum morphology |
OMIM:613224 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate... |
OMIM:609166 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Palmopl... |
OMIM:158350 |
Familial Calcium Pyrophosphate Deposition |
|
Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint mobility, Arthritis,... |
ORPHA:1416 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Abnor... |
ORPHA:444077 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis of permanent ... |
ORPHA:1401 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia |
ORPHA:2260 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici... |
OMIM:618278 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand |
ORPHA:177910 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... |
ORPHA:50 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis |
ORPHA:2470 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Noonan Syndrome 2 |
|
Short neck, Pectus excavatum, Cubitus valgus, Micrognathia, Patent ductus arteriosus, Pectus cari... |
OMIM:605275 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Esophageal neoplasm, Chronic pu... |
ORPHA:125 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Choanal atresia, Esophageal atresia, Postaxial hand p... |
ORPHA:3380 |
Meacham Syndrome |
|
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Cardiac to... |
OMIM:608978 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho... |
ORPHA:2835 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Prominent nasal bridge, Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Sh... |
ORPHA:464311 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:261537 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Genu va... |
OMIM:264090 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Short neck, Underdeveloped nasal alae, Short thorax, Rectal at... |
OMIM:617666 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Micrognathia, Pectus excavatum, High palate, Scoliosis, Pes cavus |
OMIM:617675 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Short neck, Short nose, Rib fusion, Hemivertebrae, Cleft palate, Wide... |
ORPHA:1394 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib morpholo... |
ORPHA:2519 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Depressed nasal bridge, Pectus excavatum, Pulmonary lymphangiec... |
OMIM:265300 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla... |
ORPHA:991 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Camptodactyly of finger, Micrognathia, Prominent nose, Long nos... |
ORPHA:3047 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin... |
ORPHA:169805 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Clinodactyly of th... |
ORPHA:138 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Patent ductus arteriosus,... |
ORPHA:1519 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Micrognathia, Kyphosis, Posterior rib gap, Cleft... |
ORPHA:1393 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Limb joint contracture, Respiratory failure |
OMIM:620327 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary in... |
OMIM:620233 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Velocardiofacial Syndrome |
|
Talipes, Abnormality of the hand, Underdeveloped nasal alae, Velopharyngeal insufficiency, Submuc... |
OMIM:192430 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Esophageal varix, Abnormal pul... |
ORPHA:2072 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft upper lip, Pectus excavatum, Long fingers, Short neck, Cleft pa... |
OMIM:614294 |
Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo... |
OMIM:194050 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:2152 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Cardiac-Urogenital Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Partial anomalous pulmonary venous return, 2-3 ... |
OMIM:618280 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Pes planus, Tapered finger, Pectus excavatum, Asthma, Narrow palm, Cleft palate, Stridor, High pa... |
OMIM:616973 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, P... |
ORPHA:980 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:261552 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Absent thumb, Short neck, Short thumb, Partial duplica... |
ORPHA:124 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Absent outer dynein arms, Anosmi... |
OMIM:244400 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Pectus excavatum, Talipes equinovarus, Narrow mouth, Malar flattening |
OMIM:177980 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Broad nasal tip, Submucous clef... |
OMIM:619680 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered f... |
ORPHA:1272 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Pneumonia, Anterior rib cupping, Horizontal inferior border of scapula, Asthma, Recurr... |
OMIM:102700 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Depressed nasal ridge, G... |
OMIM:230500 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Lymphatic Malformation 6 |
|
Micrognathia, Pectus excavatum, Intestinal lymphangiectasia, Chylothorax, Scoliosis, Pleural effu... |
OMIM:616843 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... |
ORPHA:228123 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Abnormal vertebral morphology, Joint la... |
ORPHA:821 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Respiratory insufficiency, Abnormal form of t... |
ORPHA:93941 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Mitochondrial Trifunctional Protein Deficiency |
|
Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Respiratory insufficiency, R... |
ORPHA:746 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:313850 |
Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pa... |
ORPHA:201 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition... |
ORPHA:2785 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Osteopetrosis |
ORPHA:3240 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Pes planus, Single transverse palmar crease... |
OMIM:223370 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Esophageal varix, Pulmonary hypoplasia |
OMIM:263200 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Neonatal death,... |
OMIM:617248 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Relapsing Polychondritis |
|
Chondritis of pinna, Atelectasis, Dyspnea, Limitation of joint mobility, Anteriorly placed anus, ... |
ORPHA:728 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Intestinal malrotation, Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:208540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Patent ductus arteriosus, Elev... |
OMIM:619351 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Prominent fingertip pads, Sacral dimpl... |
OMIM:619539 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Esophageal varix, D... |
ORPHA:731 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... |
ORPHA:3455 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Patent ductus arteriosus, Respiratory insufficiency, Thin ri... |
OMIM:617397 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Bulbous nose, Asthma, Rib fusion, Cli... |
ORPHA:544488 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Atelectasis, High, narrow palate, Recurrent pneumonia, Chronic pul... |
OMIM:188400 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Clapo Syndrome |
|
Hemihypertrophy of lower limb, Macrodactyly, Pectus excavatum, Hemihypertrophy of upper limb, Cap... |
ORPHA:168984 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Abnormal rib cage morphology, ... |
OMIM:217100 |
Renal Agenesis |
|
Talipes equinovarus, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Esophag... |
OMIM:192350 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Eosinophilic infiltration of the esophagus, Micro... |
OMIM:609192 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Respiratory failu... |
OMIM:610505 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Pectus excavatum, High palate, Cleft palate |
ORPHA:488613 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Broad nasal tip, Submucous c... |
OMIM:618106 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Pulmonary artery ... |
OMIM:214800 |
Sarcoidosis, Susceptibility To, 1 |
|
Cough, Dyspnea, Bone cyst, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:181000 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Patent ductus arteriosus, Tachypnea, Bell-shaped thorax, Pulmonary arterial hyperte... |
OMIM:614857 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insufficiency due to muscle wea... |
ORPHA:169189 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Patent ductus arteriosus, Aortopulmonary window, Pulmonary hypo... |
ORPHA:99050 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Anteverted nares, Tarsal synostosis, Bulbous nose, Rib fusion, Wide nasal bridge, H... |
OMIM:157800 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Micrognathia, Pectus excavatum, Short metatarsal, High palate, Scoliosis, Cubitus ... |
ORPHA:1772 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Pulmonary art... |
OMIM:301068 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Pes planus, Cleft soft palate, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial... |
OMIM:614557 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Butterfly vertebral arch, Depressed nasal bridge, Long nose, Bulbous nose... |
OMIM:118450 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,... |
OMIM:616462 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Hypoplastic pulmonary veins, Micrognathia, Cleft palate, ... |
OMIM:618021 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Abnormal lung lobation, Posterior rib fusion, Neonatal death, Neonatal respiratory ... |
OMIM:265380 |
Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Abnormality of the nose, Osteoarthritis, Reduced bone min... |
ORPHA:56 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Wide nose, Micrognathia, Pectus excavatum, Underdeveloped nasal alae, Supernumerary t... |
OMIM:619525 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Patent d... |
OMIM:609942 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Ging... |
ORPHA:286 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, High palate, Micrognathia |
OMIM:619699 |
Congenital Heart Defects, Multiple Types, 9 |
|
Pectus excavatum, Truncus arteriosus, Miscarriage, Pulmonary artery atresia |
OMIM:620294 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Short neck, Pectus excavatum, Promi... |
OMIM:601321 |
Malignant Atrophic Papulosis |
|
Intestinal perforation, Intestinal fistula, Pleural effusion, Respiratory failure |
ORPHA:679 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Listeriosis |
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Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory f... |
ORPHA:533 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri... |
ORPHA:2396 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Birk-Barel Syndrome |
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Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi... |
OMIM:612292 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Depressed nasal bridge, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, ... |
ORPHA:97685 |
Autosomal Recessive Cutis Laxa Type 1 |
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Joint laxity, Pyloric stenosis, Wide anterior fontanel, Pneumothorax, Recurrent pneumonia, Hip di... |
ORPHA:90349 |
Fanconi Renotubular Syndrome 3 |
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Rickets, Bowing of the legs |
OMIM:615605 |
Abetalipoproteinemia |
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Osteopenia, Kyphoscoliosis, Respiratory failure, Talipes equinovarus, Steatorrhea, Fat malabsorpt... |
ORPHA:14 |
Neurofibromatosis, Type I |
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Pectus excavatum, Tibial pseudarthrosis, Scoliosis, Genu valgum |
OMIM:162200 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous... |
OMIM:619103 |
Infantile Krabbe Disease |
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Respiratory distress, Respiratory failure |
ORPHA:206436 |
Hemorrhagic Fever-Renal Syndrome |
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Back pain, Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Congenital Tricuspid Valve Dysplasia |
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Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Autosomal Dominant Cutis Laxa |
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Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Hip dislocation, Bronchiectasis, Talipes c... |
ORPHA:90348 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pectus excavatum, Pylor... |
OMIM:235730 |
Poliomyelitis |
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Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck |
ORPHA:2912 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Pes planus, Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
Aortic Aneurysm, Familial Thoracic 10 |
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Joint laxity, Dental crowding, Pectus excavatum, High palate, Scoliosis, Joint hypermobility |
OMIM:617168 |
Penile Agenesis |
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Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Bilat... |
ORPHA:49 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure |
ORPHA:280210 |
Whim Syndrome |
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Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Bilateral Perisylvian Polymicrogyria |
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Apnea, Choanal atresia, Micrognathia, Pectus excavatum, Protruding tongue, Flexion contracture, D... |
ORPHA:98889 |
Fabry Disease |
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Malabsorption, Dyspnea, Thick lower lip vermilion, Chronic pulmonary obstruction, Abnormal femur ... |
ORPHA:324 |
1P36 Deletion Syndrome |
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Depressed nasal ridge, Clinodactyly of the 5th finger, Abnormality of the anus, Depressed nasal b... |
ORPHA:1606 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Lujo Hemorrhagic Fever |
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Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Leigh Syndrome |
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Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration |
ORPHA:506 |
Zygomycosis |
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Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Enterocolitis, Acute infe... |
ORPHA:73263 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
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Pectus excavatum, Bone cyst, Large hands, Scoliosis, Long foot, Pes cavus, Joint hypermobility |
OMIM:613675 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Pectus excavatum, High palate, Abnormality of the dentition |
OMIM:251750 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Lethal Congenital Contracture Syndrome 5 |
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Death in infancy, Flexion contracture, Respiratory insufficiency, Thin ribs, Congenital contracture |
OMIM:615368 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Narrow mouth, Flexion contracture, Thin ribs |
OMIM:614833 |
Tolchin-Le Caignec Syndrome |
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Arachnodactyly, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide nasal bridge, Hig... |
OMIM:618971 |
Holoprosencephaly 13, X-Linked |
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Median cleft lip, Micrognathia, Patent ductus arteriosus, Submucous cleft hard palate, Vertebral ... |
OMIM:301043 |
Townes-Brocks Syndrome |
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Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral m... |
ORPHA:857 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Sacral dimple, Wide nose, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2556 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Osteopenia, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Cardiac Diverticulum |
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Aplasia/Hypoplasia of the sternum, Pulmonary artery stenosis, Partial anomalous pulmonary venous ... |
ORPHA:1686 |
Branchiooculofacial Syndrome |
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Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Clinodact... |
OMIM:113620 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Pontine Tegmental Cap Dysplasia |
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Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration |
OMIM:614688 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Absence of the sacrum, Talipes, Submucous cleft hard palate, Bifid uvula, Butterfly vertebrae |
OMIM:617660 |
Cleft Soft Palate |
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Cleft soft palate |
OMIM:119570 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
Isolated Childhood Apraxia Of Speech |
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High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Bencze Syndrome |
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Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Missing ribs, Esophageal atresia, Patent ductus arteriosus, Rib fusion, Hemiver... |
OMIM:206900 |
Holoprosencephaly 2 |
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Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Craniorachischisis |
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Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Granulomatous Disease, Chronic, X-Linked |
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Osteomyelitis, Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion |
OMIM:306400 |
Tuberous Sclerosis Complex |
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Respiratory tract infection, Respiratory failure, Respiratory distress, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Niemann-Pick Disease Type C |
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Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Hemifacial Hyperplasia With Strabismus |
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Submucous cleft hard palate |
OMIM:141350 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan... |
OMIM:154500 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Submucous cleft hard palate, Flexion contracture, Ankle clonus, Talipes valgus, Pes cavus, Narrow... |
OMIM:618891 |
Diffuse Cutaneous Systemic Sclerosis |
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Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Na... |
ORPHA:220393 |
Waardenburg Syndrome, Type 2E |
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Pectus excavatum, Anosmia |
OMIM:611584 |
Limited Cutaneous Systemic Sclerosis |
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Foot joint contracture, Narrow foramen obturatorium, Pulmonary fibrosis, Pulmonary arterial hyper... |
ORPHA:220402 |
Cutis Laxa, Autosomal Dominant 1 |
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Dyspnea, Bronchiectasis, Long philtrum, Emphysema, Convex nasal ridge, Peripheral pulmonary arter... |
OMIM:123700 |
Meacham Syndrome |
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Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary venous return, Aplasia/Hypo... |
ORPHA:3097 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Bifid Uvula |
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Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |