Lipodystrophy-Intellectual Disability-Deafness Syndrome |
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Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Sle... |
ORPHA:50811 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
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Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses, Micrognathia... |
OMIM:601560 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Cub... |
OMIM:608154 |
Acrocapitofemoral Dysplasia |
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Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
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Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
Spondyloepiphyseal Dysplasia Congenita |
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Abnormal foot morphology, Upper limb undergrowth, Increased head circumference, Abnormal respirat... |
ORPHA:94068 |
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
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Cutaneous finger syndactyly, Short stature, Swan neck-like deformities of the fingers, Abnormalit... |
ORPHA:329252 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... |
OMIM:601376 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Epiphyseal stippling, Failure to thrive, Rhizomelia, Disproportionate short-limb short stature, S... |
OMIM:600121 |
Marshall-Smith Syndrome |
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Omphalocele, Apnea, Malar flattening, Atlantoaxial dislocation, Decreased body weight, Umbilical ... |
OMIM:602535 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Severe... |
OMIM:619598 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Micrognathia, Intrauterine growth retardation, Adducted thumb, Small for gestational age, Decreas... |
OMIM:616897 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Metaphyseal dysplasia, Short 5th metacarpal, Short stature, Multiple small vertebral fractures, P... |
OMIM:156510 |
Osteolysis Syndrome, Recessive |
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Distal radial epiphyseal osteolysis, Abnormal foot morphology, Short stature, Osteolytic defects ... |
OMIM:259610 |
Pseudoachondroplasia |
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Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Femoral-Facial Syndrome |
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Micrognathia, Talipes equinovarus, Short stature, Abnormal sacrum morphology, Coxa vara, Hip dysp... |
ORPHA:1988 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Abnormality of the knee, Malar flattening, Congenital hip dislocation, Deviation of finger, Ingui... |
ORPHA:2412 |
Odontochondrodysplasia 1 |
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Genu varum, Death in infancy, Short stature, Delayed eruption of teeth, Genu recurvatum, Short ph... |
OMIM:184260 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Carious teeth, Hip contracture, Pes planus, Short long bone, Microretrognathia, Micrognathia, Sma... |
OMIM:618363 |
Atelosteogenesis, Type I |
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Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Malar flattening, 1... |
OMIM:108720 |
Fibular Hemimelia |
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Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Epiphyseal Dysplasia, Multiple, 1 |
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Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Mild sho... |
OMIM:132400 |
Atelosteogenesis Type Ii |
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Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... |
ORPHA:56304 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Short stature,... |
OMIM:147891 |
Pelviscapular Dysplasia |
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Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... |
ORPHA:93333 |
Thanatophoric Dysplasia Type 1 |
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Femoral bowing, Short greater sciatic notch, Respiratory insufficiency, Abnormal sacroiliac joint... |
ORPHA:1860 |
Pde4D Haploinsufficiency Syndrome |
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Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor... |
ORPHA:439822 |
Microphthalmia With Limb Anomalies |
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Death in infancy, Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Fing... |
ORPHA:1106 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F... |
ORPHA:3329 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Sh... |
ORPHA:99642 |
Geroderma Osteodysplasticum |
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Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ... |
OMIM:231070 |
Eiken Syndrome |
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Limited elbow flexion, Short stature, Metaphyseal irregularity, Epiphyseal dysplasia, Cubitus val... |
ORPHA:79106 |
Greenberg Dysplasia |
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Omphalocele, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple prenatal fractures,... |
OMIM:215140 |
Pycnodysostosis |
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Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Hypoplasia of the maxill... |
ORPHA:763 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
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Hallux valgus, Micrognathia, Short middle phalanx of finger, Intrauterine growth retardation, Sho... |
OMIM:211920 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ulnar deviation... |
OMIM:166300 |
Premature Aging Syndrome, Penttinen Type |
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Micrognathia, Delayed eruption of teeth, Osteopenia, Lipoatrophy, Slender long bone, Hypoplasia o... |
OMIM:601812 |
Brachyolmia Type 1, Hobaek Type |
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Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... |
OMIM:271530 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... |
OMIM:210710 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Upper airway obstruction, F... |
ORPHA:440354 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Talipes equinovarus, Tapered finger, Short stature, Macrocephaly, Short palm, Camptodactyly of fi... |
ORPHA:85279 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip... |
OMIM:108721 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Short stature, Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Moderately s... |
OMIM:612350 |
Aarskog-Scott Syndrome |
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Short stature, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptod... |
ORPHA:915 |
Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Talipes equinovarus, Short... |
OMIM:251450 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Broad femoral neck, Small epiphyses, Discolored lateral incisors, Tapered finger, Irregular verte... |
OMIM:601668 |
Atelosteogenesis Type I |
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Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... |
ORPHA:1190 |
Pseudoachondroplasia |
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Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Brachytelephalangic Chondrodysplasia Punctata |
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Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... |
ORPHA:79345 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Hypoplasia of the maxilla, Short... |
OMIM:170390 |
Carpenter Syndrome 1 |
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Omphalocele, Genu varum, Short stature, Malar flattening, Joint contracture of the hand, Deviatio... |
OMIM:201000 |
Florid Cemento-Osseous Dysplasia |
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Abnormal cementum morphology, Supernumerary tooth, Abnormal bone structure, Multiple impacted tee... |
ORPHA:83451 |
Cardiocranial Syndrome, Pfeiffer Type |
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Micrognathia, Intrauterine growth retardation, Growth delay, Short stature, Deep palmar crease, T... |
ORPHA:2872 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
Spondyloepiphyseal Dysplasia Tarda |
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Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Cerebrooculofacioskeletal Syndrome 4 |
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Micrognathia, Failure to thrive in infancy, Intrauterine growth retardation, Flexion contracture ... |
OMIM:610758 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... |
ORPHA:93314 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Osteolysis |
ORPHA:2776 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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C1-C2 subluxation, Hip contracture, Short stature, Pes planus, Delayed eruption of teeth, Protrus... |
OMIM:259600 |
Ruvalcaba Syndrome |
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Short stature, Short metatarsal, Small hand, Delayed puberty, Kyphosis, Short metacarpal, Short f... |
OMIM:180870 |
Heyn-Sproul-Jackson Syndrome |
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Intrauterine growth retardation, Broad phalanx, Severe short stature, 11 pairs of ribs, Short met... |
OMIM:618724 |
Cohen Syndrome |
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Macrodontia of permanent maxillary central incisor, Micrognathia, Narrow palm, Tapered finger, Sh... |
OMIM:216550 |
Frontonasal Dysplasia 1 |
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Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Joint contracture of the hand, Radial devi... |
OMIM:136760 |
Aicardi Syndrome |
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Butterfly vertebrae, Multiple lipomas, Small hand, Missing ribs, Hip dysplasia, Hiatus hernia, Bl... |
ORPHA:50 |
Aicardi Syndrome |
|
Butterfly vertebrae, Hemivertebrae, Missing ribs, Proximal placement of thumb, Postnatal growth r... |
OMIM:304050 |
Congenital Disorder Of Glycosylation, Type Ig |
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Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... |
OMIM:607143 |
Anauxetic Dysplasia 2 |
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Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Short stature, Cub... |
OMIM:617396 |
Dysostosis, Stanescu Type |
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Carious teeth, Short stature, Abnormality of epiphysis morphology, Bowing of the long bones, Hypo... |
ORPHA:1798 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Absent thumb, ... |
OMIM:612447 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib... |
ORPHA:397973 |
3Mc Syndrome 2 |
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Abnormality of the vertebral column, Radioulnar synostosis, Abnormal vertebral morphology, Cranio... |
OMIM:265050 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Shor... |
OMIM:215150 |
Multiple Epiphyseal Dysplasia Type 4 |
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Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... |
ORPHA:157965 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... |
OMIM:256050 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Abnormal hip joint morphology, Short stature, Abnormal lumbar spine morphology, Thoracic scoliosi... |
ORPHA:166011 |
Acrodysostosis |
|
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Short stature, Epiphyseal ... |
ORPHA:950 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Na... |
OMIM:101800 |
Temtamy Preaxial Brachydactyly Syndrome |
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Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Hypoplasia of the ma... |
ORPHA:363417 |
Kyphomelic Dysplasia |
|
Disproportionate short stature, Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, ... |
OMIM:211350 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Amelia, Omphalocele, Foot oligodactyly, Short femur, Scoliosis |
OMIM:601357 |
Aarskog-Scott Syndrome |
|
Short stature, Pes planus, Syndactyly, Hypoplasia of the maxilla, Broad palm, Broad foot, Cervica... |
OMIM:305400 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Meier-Gorlin Syndrome 1 |
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Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Birth length less than 3rd percenti... |
OMIM:224690 |
Lujan-Fryns Syndrome |
|
Micrognathia, Arachnodactyly, Brachydactyly, Macrocephaly, Camptodactyly of finger, Hypoplasia of... |
ORPHA:776 |
Keipert Syndrome |
|
Short hallux, Broad hallux phalanx, Short stature, Broad thumb, Broad distal phalanx of finger, M... |
ORPHA:2662 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Intrauterine growth retardation, Short stature, Failure to thrive, Congenital diap... |
OMIM:617602 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Malar flattening, Postnatal growth retardation, Short toe, Anterior scalloping of... |
OMIM:611717 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Short stature, Fibrous dysplasia of the bones, Rickets, Abnormal bone st... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... |
OMIM:300106 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Supernumerary tooth, Delayed eruption of tee... |
OMIM:614188 |
Three M Syndrome 1 |
|
Neonatal respiratory distress, Short stature, Malar flattening, Short ribs, Pes planus, Postnatal... |
OMIM:273750 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less... |
OMIM:613804 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplasia of the odontoid process, Hy... |
OMIM:607326 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less... |
OMIM:613805 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla, Microcephaly |
OMIM:618383 |
Ivic Syndrome |
|
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... |
OMIM:147750 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Apnea, Mala... |
OMIM:601559 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Tapered finger, Long fingers, Flexion contracture, Restrictive ventilatory de... |
OMIM:218000 |
Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Epiphyseal dysplasia, Pes ... |
OMIM:615777 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Severe postnatal growth retardation, Abnormality of cartilage of external ear, Lipomas of eyelids... |
ORPHA:2399 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx o... |
ORPHA:1248 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... |
OMIM:608940 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Neonat... |
OMIM:259420 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Toe syndactyly, Mandibular prognathia... |
ORPHA:1540 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Growth delay, Talipes equinovarus, Short stature, Swan neck-like deformities of the fingers, Meta... |
OMIM:616716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Talipes equinovarus, Short stature, Mandibular prognathia, Large hands, Talipes cal... |
OMIM:300534 |
Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly |
OMIM:246560 |
Martsolf Syndrome 1 |
|
Metatarsus adductus, Micrognathia, Slender ulna, Talipes equinovarus, Short stature, Short phalan... |
OMIM:212720 |
Shprintzen-Goldberg Syndrome |
|
Abnormal form of the vertebral bodies, Apnea, Pes planus, Camptodactyly of finger, Hypoplasia of ... |
ORPHA:2462 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of finger, Abnormality of the wrist, Camptodactyly of finger, Ulnar deviation of ... |
ORPHA:1529 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Intrauterine growth retardation, Short femur, Short stature, Failure to thrive, Lon... |
OMIM:264090 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... |
ORPHA:1427 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvatum, Camptodactyly, H... |
OMIM:182212 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Hallux valgus, Talipes equinovarus, Dysplasia of the femoral head, Postnatal growt... |
ORPHA:536467 |
Wt Limb-Blood Syndrome |
|
Micrognathia, Ulnar deviation of thumb, Clinodactyly of the 5th finger, Short thumb, Absent thumb... |
OMIM:194350 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Short stature, Broad finger, Broad toe, F... |
OMIM:112910 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Long fingers, Malar flattening, Proximal placement of thumb, Hip dislocation, Pes... |
OMIM:613458 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Malar flattening, Macrocephaly, Broad thumb, Hypoplasia of t... |
ORPHA:261295 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Short finger, Short met... |
OMIM:190351 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Short stature, Cubitus valgus, Malar flattening, Prominent calcaneus, Pe... |
ORPHA:457395 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Genu varum, Intrauterine growth retardation, Aplasia/Hypoplasia of the patella, Tal... |
OMIM:613803 |
Pyruvate Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Growth delay, Tachypnea, Dyspnea, Osteolytic defects of the midd... |
ORPHA:765 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal mandible morphology, Abnormality of the maxilla |
ORPHA:401942 |
Stickler Syndrome Type 1 |
|
Abnormality of epiphysis morphology, Platyspondyly, Joint hyperflexibility, Hypoplasia of the max... |
ORPHA:90653 |
Acromesomelic Dysplasia 4 |
|
Genu varum, Short stature, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thor... |
OMIM:619636 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Talipes equinovarus, Malar flattening, Joint contracture of the hand, Long hallux,... |
OMIM:600920 |
Arthrogryposis, Distal, Type 3 |
|
Distal arthrogryposis, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Ulnar devi... |
OMIM:114300 |
Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Severe short s... |
OMIM:102370 |
Dental Anomalies And Short Stature |
|
Herniation of intervertebral nuclei, Intervertebral space narrowing, Short stature, Mandibular pr... |
OMIM:601216 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Omphalocele, Short stature, Short metatarsal, Malar flattening, Sho... |
OMIM:304120 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... |
OMIM:210720 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Coffin-Lowry Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Pes planus, Delayed eruption of teeth, Slee... |
ORPHA:192 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the ulna, Short stature, Oligodactyly, Aplasia/Hypoplasia of th... |
ORPHA:1307 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Talipes equinovarus, Apnea, 11 pairs of ribs, Femoral bo... |
OMIM:114290 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Joint hypermobility, Emphysema, In... |
OMIM:614437 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Small for gestational age, Short stature, Mandibular prognathia, Hypoplasia of the maxilla, Decre... |
ORPHA:93950 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Intrauterine growth retardation, Cone-shaped epiphysis, Mandibular prognat... |
OMIM:614613 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Short stature, Dysplasia of the femora... |
ORPHA:536471 |
Acrocephalopolysyndactyly Type Iii |
|
Mandibular prognathia, Lower limb undergrowth, Broad thumb, Craniosynostosis, Malar flattening, P... |
OMIM:101120 |
Osteoglophonic Dysplasia |
|
Pseudoarthrosis, Short metatarsal, Malar flattening, Short phalanx of finger, Broad palm, Hypopla... |
OMIM:166250 |
Cohen Syndrome |
|
Short stature, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, Micrognathia, Intrau... |
ORPHA:193 |
Myhre Syndrome |
|
2-3 toe syndactyly, Short stature, Birth length less than 3rd percentile, Malar flattening, Enlar... |
OMIM:139210 |
Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Short stature, Shor... |
OMIM:615222 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Small for gestational age, Failure to thrive, Progressive microcephaly, Short dist... |
OMIM:614261 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Camptodactyly of finger, Respiratory failure, Hypoplasia of the maxilla, Micro... |
ORPHA:2554 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Skraban-Deardorff Syndrome |
|
Micrognathia, Hyperplasia of the maxilla |
OMIM:617616 |
Lowry-Maclean Syndrome |
|
Micrognathia, Intrauterine growth retardation, Growth delay, Talon cusp, Congenital diaphragmatic... |
ORPHA:2409 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Short stature... |
OMIM:257850 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Micrognathia, Abnormality of primary molar morphology, Short stature, Limb undergrowth, Spontaneo... |
OMIM:225410 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Respiratory insufficiency, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Mal... |
ORPHA:93262 |
Moebius Syndrome |
|
Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Arthrogryposis multipl... |
OMIM:157900 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Short stature, Small for gestational age, Dysplastic sacrum, Tachypnea, Pulm... |
OMIM:613320 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, S... |
OMIM:112350 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormality of ethmoid bone, Abnormality of the odontoid process, Palmoplantar cutis laxa, Delaye... |
ORPHA:2976 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal g... |
OMIM:617102 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis, Microcephaly |
OMIM:608432 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Intrauterine growth retardation, Talipes equinovarus, Small for gestational age, Tachypnea, Failu... |
OMIM:604320 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Finger syndactyly, Sandal gap, Limitation of joint mobility, Camptodactyly of f... |
ORPHA:178303 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Long palm, Mandibular prognathia, Long foot, Slender build, Kyphosis, Macrocephaly, Hypoplasia of... |
OMIM:300676 |
Van Maldergem Syndrome 2 |
|
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ... |
OMIM:615546 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Hyperplasia o... |
ORPHA:313892 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing,... |
OMIM:311300 |
Kagami-Ogata Syndrome |
|
Omphalocele, Micrognathia, Long fingers, Limb undergrowth, Kyphoscoliosis, Pulmonary arterial hyp... |
OMIM:608149 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Intrauterine growt... |
ORPHA:2257 |
Van Maldergem Syndrome 1 |
|
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ... |
OMIM:601390 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Short stature, Cigarette-paper scars, Hyperextensibility of the knee, Inguinal ... |
OMIM:130000 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Tibial bowing, Fibular bowing, Short stature, Bowing of the legs, Enamel h... |
OMIM:307800 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Short stature, Malar flattening, Hip dislocation, Macrocepha... |
OMIM:109120 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Failure to thrive, Arachnodacty... |
ORPHA:481152 |
3M Syndrome |
|
Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Increased vertebral ... |
ORPHA:2616 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Short stature, Hypoplasia of the radius, Fing... |
OMIM:228930 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... |
ORPHA:93356 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short lower limbs, Lower limb undergrowth, Disproportionate short-limb short stature, Severe shor... |
OMIM:127200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Growth delay, Proportionate short stature, Platyspondyly, Os... |
OMIM:619269 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Micrognathia, Death in infancy, Ulnar deviation of the... |
OMIM:602613 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ri... |
OMIM:277440 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Abnormality of the vertebral column, Hallux valgus, Short stature, Short metatarsal, Cubitus valg... |
OMIM:151200 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Short stature, Epiphyseal stip... |
ORPHA:96334 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Triphalangeal thumb, Short stature, Broad thumb, Craniosynostosis, Abnormal form o... |
ORPHA:794 |
Mohr Syndrome |
|
Agenesis of central incisor, Micrognathia, Short stature, Bilateral postaxial polydactyly, Metaph... |
OMIM:252100 |
Anauxetic Dysplasia 3 |
|
Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Joint hy... |
OMIM:618853 |
Nicolaides-Baraitser Syndrome |
|
Prominent interphalangeal joints, Intrauterine growth retardation, Growth delay, Short stature, F... |
OMIM:601358 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... |
OMIM:602875 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short stature, Short metacarpal, Short phalanx of finger, Brachydactyly |
OMIM:112410 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Micrognathia, Wrist swelling, Cachexia, Abnormality of epiphysis morphology, Metacarpal osteolysi... |
ORPHA:2774 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,... |
OMIM:271665 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:264700 |
Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Short stature, Slender build, Malar flattening, Cervical vertebral dysplasia,... |
ORPHA:3455 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Small epiphyses, Proximal femoral epiphysiolysis, Short stature, Narrow pelvis bone, Craniosynost... |
OMIM:616723 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Multiple lipomas, Lipomas of eyelids |
OMIM:167730 |
Three M Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Small for gestational age, Malar flattening, Prom... |
OMIM:612921 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Dens in dente, Short middle phalanx of fin... |
OMIM:263540 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Short stature, Short distal phalanx of finger, Coronal craniosynostosis... |
ORPHA:2095 |
Wrinkly Skin Syndrome |
|
Carious teeth, Short stature, Pes planus, Delayed eruption of teeth, Postnatal growth retardation... |
ORPHA:2834 |
Myhre Syndrome |
|
Intrauterine growth retardation, Large iliac wing, Mandibular prognathia, Abnormality of epiphysi... |
ORPHA:2588 |
Neurofaciodigitorenal Syndrome |
|
Intrauterine growth retardation, Triphalangeal thumb, Abnormality of the elbow, Short stature, Ma... |
ORPHA:2673 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Talipes equinovarus, Short stature, Cubitus valgus, Pes planus, Delayed eruption of teeth, Campto... |
OMIM:143095 |
Pelvis-Shoulder Dysplasia |
|
Talipes equinovarus, Short stature, Prominent protruding coccyx, Abnormal form of the vertebral b... |
ORPHA:2839 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Micrognathia, Intrauterine growth retardation, Hip contracture, Talipes, Ulnar deviation of finge... |
OMIM:210730 |
Nager Syndrome |
|
Micrognathia, Triphalangeal thumb, Respiratory insufficiency, Phocomelia, Aplasia/Hypoplasia of t... |
ORPHA:245 |
Faciocardiomelic Syndrome |
|
Micrognathia, Thin bony cortex, Polydactyly, Cuboid-shaped vertebral bodies, Osteopenia, Microcep... |
OMIM:612731 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... |
OMIM:250230 |
Frontometaphyseal Dysplasia |
|
Keloids, Short metatarsal, Pes valgus, Joint contracture of the hand, Progressive bowing of long ... |
ORPHA:1826 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... |
OMIM:602111 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Micrognathia, Talipes equinovarus, Short stature, Hemivertebrae, Beaking of vertebral bodies, Cra... |
OMIM:213980 |
Three M Syndrome 3 |
|
Growth delay, Short stature, Small for gestational age, Prominent calcaneus, Joint hypermobility,... |
OMIM:614205 |
Weill-Marchesani Syndrome 2 |
|
Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Flexion contracture of toe... |
OMIM:608328 |
Nablus Mask-Like Facial Syndrome |
|
Tapered finger, Craniosynostosis, Joint contracture of the hand, Secondary microcephaly, Retrogna... |
OMIM:608156 |
Pfeiffer Syndrome |
|
Elbow ankylosis, Mandibular prognathia, Broad thumb, Finger syndactyly, Syndactyly, Broad hallux,... |
OMIM:101600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Micrognathia, Short clavicles, Loss of subcutaneous adipose... |
OMIM:608612 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum |
ORPHA:2972 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Micrognathia, Shortening of all phalanges of fingers, Cone-shaped epiphysis, Short stature, Short... |
ORPHA:77258 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Disproportionate short-limb short stature, Multiple prenatal fractu... |
OMIM:610915 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Growth delay, Polydactyly, Failure to thrive, Apnea, Respiratory distress, Flexion contracture, S... |
ORPHA:17 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Micrognathia, Talipes equinovarus, Short stature, Talipes, Broad distal phalanx of finger, Pes pl... |
OMIM:300990 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Abnormality of the elbow, Short stature, Abnormal form of the vertebral bodies, Abn... |
ORPHA:1486 |
Sponastrime Dysplasia |
|
Abnormality of the vertebral column, Metaphyseal irregularity, Obtuse angle of mandible, Pes plan... |
ORPHA:93357 |
Nasodigitoacoustic syndrome |
|
Enlarged epiphyses, Short 3rd metacarpal, Short stature, Rounded epiphyses, Broad distal phalanx ... |
OMIM:255980 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Short stature, Proportiona... |
OMIM:277600 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Talipes equinovarus, Short stature, Osteopenia, Syndactyly, Caudal appendage, Campt... |
ORPHA:314679 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Short stature, Acetabular dysplasia, Retrognathia, Femoral bowing, Hypoplasia of th... |
OMIM:616462 |
Meier-Gorlin Syndrome 2 |
|
Micrognathia, Aplasia/Hypoplasia of the patella, Intrauterine growth retardation, Short stature, ... |
OMIM:613800 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Bowing of the long bones, Generalized... |
OMIM:617952 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Talipes equinovarus, Malar flattening, Epiphyseal dysplasia, Pes planus, Pathologi... |
OMIM:271640 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Micrognathia, Arachnodactyly, Macrocephaly, Flexion contracture, Broad thumb, Hypoplasia of the m... |
OMIM:309520 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly |
ORPHA:1276 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, Short stature, Failure to thrive, Kyphoscoliosis, Supernumerary tooth, Delayed erup... |
OMIM:264475 |
8Q24.3 Microdeletion Syndrome |
|
Short stature, Pes valgus, Pes planus, Finger clinodactyly, Short femur, Microretrognathia, Thora... |
ORPHA:508488 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Short stature, Increased susceptibility to fractures, Platyspondyly, Knee fl... |
OMIM:609220 |
Codas Syndrome |
|
Omphalocele, Metaphyseal dysplasia, Short stature, Pes valgus, Proximal placement of thumb, Delay... |
OMIM:600373 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Deformed humerus, Micrognathia, Dislocated radial head, Hypoplasia of the premaxilla, Mandibular ... |
ORPHA:2975 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... |
ORPHA:508533 |
Squalene Synthase Deficiency |
|
Micrognathia, 2-3 toe syndactyly, Intrauterine growth retardation, Failure to thrive in infancy, ... |
OMIM:618156 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Campomelic Dysplasia |
|
Talipes equinovarus, Short stature, 11 pairs of ribs, Femoral bowing, Short long bone, Poorly oss... |
ORPHA:140 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Osteoporosis, Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Rec... |
OMIM:126550 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, Tibial bowing, Short stature, Platyspondyly, Flexion contracture, Cervical kyphos... |
OMIM:245160 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Long foot, Malar flattening, Arachnodactyly, Eunuchoid habitus, Osteopenia, Joint hypermobility, ... |
ORPHA:2463 |
Subaortic Stenosis--Short Stature Syndrome |
|
Growth delay, Broad finger, Broad toe, Malar flattening, Small hand, Short foot, Short palm, Shor... |
OMIM:271960 |
Frontorhiny |
|
Hypoplastic frontal sinuses, Pericallosal lipoma, Brachydactyly, Camptodactyly of finger, Hypopla... |
ORPHA:391474 |
Atypical Rett Syndrome |
|
Growth delay, Abnormal pattern of respiration, Sudden episodic apnea, Small hand, Kyphosis, Episo... |
ORPHA:3095 |
Wiedemann-Steiner Syndrome |
|
Short middle phalanx of finger, Growth delay, Short stature, Tapered finger, Failure to thrive, S... |
OMIM:605130 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Rickets, Abnormal form of the vertebral bodies, Malar fl... |
ORPHA:2636 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Short stature, Apnea, Short ribs, Rhizomelic arm shortening, Small cervical vertebral bodies, Cer... |
ORPHA:397715 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... |
OMIM:304950 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Enlargement ... |
ORPHA:289157 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Ulnar deviation of the ... |
OMIM:122880 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Micrognathia, Gene... |
ORPHA:73230 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Short stature, Tapered finger, Taurodontia, S... |
OMIM:616202 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short stature, Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Genu varum, Metaphyseal dysplasia, Short stature, Metaphyseal chondromatosis of ulna, Metaphyseal... |
ORPHA:99646 |
Cleidocranial Dysplasia |
|
Neonatal respiratory distress, Malar flattening, Aplastic clavicle, Absent frontal sinuses, Short... |
OMIM:119600 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Short stature, Enlargement of the wrists, Delayed eruption of teeth, Increased bone m... |
ORPHA:289176 |
Acromesomelic Dysplasia 3 |
|
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, D... |
OMIM:609441 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Intrauterine growth retardation, Birth length less than 3rd percentile, Small hand... |
OMIM:244460 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Broad long bones, Intrauterine growth retardation, Micromelia, Severe short stature, Short metaca... |
ORPHA:1422 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Short stature, Short metatarsal, Short metacarpal, Short toe, Hypoplasia of the maxilla, Short ph... |
OMIM:211370 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Short stature, Epistaxis, Asthma, Hypoplasia of the maxilla, Clinodactyly, M... |
ORPHA:293939 |
Joubert Syndrome 7 |
|
Central apnea, Postaxial polydactyly, Tachypnea, Episodic tachypnea, Neonatal breathing dysregula... |
OMIM:611560 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Short stature, Malar flattening, Secondary microcephaly, Preaxial hand polydactyly,... |
ORPHA:79113 |
Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Micrognathia, Radial bowing, Madelung deformity, Broad ulna, Hypoplasia ... |
OMIM:249700 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ... |
ORPHA:231226 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight, Short stature |
ORPHA:93945 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures... |
OMIM:166220 |
Peters-Plus Syndrome |
|
Birth length less than 3rd percentile, Short metatarsal, Proximal placement of thumb, Syndactyly,... |
OMIM:261540 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct... |
ORPHA:60032 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial ap... |
OMIM:274000 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Abnormal dental enamel morphology, Delayed eruption of teeth, ... |
ORPHA:2791 |
Stickler Syndrome |
|
Short stature, Slender build, Abnormal form of the vertebral bodies, Malar flattening, Abnormal d... |
ORPHA:828 |
Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Crouzon Disease |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Multiple suture craniosynostosis, Abnormal ... |
ORPHA:207 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Posterior wedging of vertebral bodies, Short stature, Pes planus, Delayed eruption... |
ORPHA:50814 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Short stature, Craniosynostosis, Short phalanx of finger, Short ribs, Hypo... |
OMIM:266920 |
Osteogenesis Imperfecta |
|
Carious teeth, Neonatal respiratory distress, Short stature, Abnormal form of the vertebral bodie... |
ORPHA:666 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Micrognathia, Talipes, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Umb... |
ORPHA:2166 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo... |
OMIM:601356 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Increa... |
ORPHA:2769 |
Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Talipes equinovarus, Syndactyly, Hypoplasia of the maxilla, Short phalanx of finger,... |
OMIM:263650 |
Apert Syndrome |
|
Toe syndactyly, Cervical C5/C6 vertebrae fusion, Respiratory insufficiency, Mandibular prognathia... |
ORPHA:87 |
Rubinstein-Taybi Syndrome 1 |
|
Keloids, Radial deviation of thumb terminal phalanx, Short stature, Pes planus, Syndactyly, Postn... |
OMIM:180849 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, 2-3 toe syndactyly, Growth delay, Short stature, Small... |
ORPHA:37553 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ... |
ORPHA:231214 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Growth delay, Tachypnea, Pulmonary arterial hypertension, Inguinal hernia |
OMIM:614857 |
Cleft Velum |
|
Hypoplasia of the maxilla, Aspiration pneumonia |
ORPHA:99772 |
Marshall-Smith Syndrome |
|
Failure to thrive, Increased susceptibility to fractures, Craniosynostosis, Bowing of the long bo... |
ORPHA:561 |
Primrose Syndrome |
|
Hip contracture, Increased size of the mandible, Short stature, Calcification of the auricular ca... |
OMIM:259050 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Macrocephaly, Omphalocele, Absent nasal septal cartilage |
OMIM:610828 |
Cowden Syndrome 5 |
|
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... |
OMIM:615108 |
Distal Monosomy 19P13.3 |
|
Keloids, Arachnodactyly, Long toe, Hypoplasia of the maxilla, Vaginal hernia, Umbilical hernia, J... |
ORPHA:96129 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Short metatarsal, Malaligned carpal bone, Fibular hypopla... |
OMIM:228900 |
Zttk Syndrome |
|
Relative macrocephaly, Intrauterine growth retardation, Growth delay, Short stature, Hemivertebra... |
OMIM:617140 |
Czech Dysplasia |
|
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... |
OMIM:609162 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Postaxial polydactyly |
OMIM:619142 |
Frank-Ter Haar Syndrome |
|
Talipes equinovarus, Camptodactyly, Short phalanx of finger, Short long bone, Anterior concavity ... |
OMIM:249420 |
Yunis-Varon Syndrome |
|
Short middle phalanx of finger, Short stature, Short ribs, Syndactyly, Postnatal growth retardati... |
ORPHA:3472 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... |
ORPHA:85167 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Pu... |
OMIM:265120 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla, Progressive microcephaly |
OMIM:618737 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Pulp calcification, Short middle phala... |
OMIM:606895 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea, Polydactyly |
OMIM:616490 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia, Biparietal narrowing |
ORPHA:228396 |
Cowden Syndrome 6 |
|
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... |
OMIM:615109 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Femoral bowing, Rocker bottom foot, Narrow pelvis bone, Malar flattening, Arachnodactyly, Ulnar b... |
OMIM:207410 |
Thalidomide Embryopathy |
|
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Short stature, Aplasia/... |
ORPHA:3312 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Cough, Arthritis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ... |
ORPHA:2502 |
Chromosome 2Q37 Deletion Syndrome |
|
Short stature, Short metatarsal, Malar flattening, Short metacarpal, Short toe, Obesity, Short ph... |
OMIM:600430 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, 11 pairs of ribs, Iliac c... |
OMIM:250220 |
Multiple Osteochondromas |
|
Short lower limbs, Abnormal lower limb bone morphology, Short stature, Femoroacetabular impingeme... |
ORPHA:321 |
Treacher-Collins Syndrome |
|
Abnormality of the vertebral column, Micrognathia, Respiratory insufficiency, Abnormality of bone... |
ORPHA:861 |
Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Increased head circumference, Short iliac bones, Aplastic pubic bones,... |
ORPHA:3003 |
Orofaciodigital Syndrome Type 2 |
|
Short stature, Apnea, Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Sho... |
ORPHA:2751 |
Marshall Syndrome |
|
Micrognathia, Short stature, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic bone, Malar... |
ORPHA:560 |
Wrinkly Skin Syndrome |
|
Carious teeth, Talipes equinovarus, Short stature, Pes planus, Delayed eruption of teeth, Umbilic... |
OMIM:278250 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Genu varum, Short stature, Abnormal dental enamel morphology, Delayed eruption of ... |
ORPHA:221016 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Sleep apnea, Coronal craniosynostosis, ... |
OMIM:123500 |
Holoprosencephaly 9 |
|
Short stature, Malar flattening, Agenesis of incisor, Hypoplasia of the premaxilla, Postaxial han... |
OMIM:610829 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Broad finger, Small hand, Abnormal hand morphology, Retrognathia, Short phalanx of... |
OMIM:300845 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Hallux valgus, Toe syndactyly, Radioulnar synostosis, Short stature, Abn... |
OMIM:101400 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Genu varum, Patellar aplasia, Abnormality of the radial head, Short stature, Growt... |
ORPHA:221008 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Growth delay, Short stature, Failure to thrive, Apnea, Mesoaxial polydactyly, Foot ... |
ORPHA:2754 |
Femoral-Facial Syndrome |
|
Talipes equinovarus, Short stature, Hypoplastic acetabulae, Short humerus, Short fourth metatarsa... |
OMIM:134780 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Talipes equinovarus, Mandibular prognathia, Ulnar deviation of finger, Inguinal hernia, Camptodac... |
ORPHA:1101 |
Singleton-Merten Syndrome 1 |
|
Carious teeth, Expanded metacarpals with widened medullary cavities, Eruption failure, Hypoplasti... |
OMIM:182250 |
Branchioskeletogenital Syndrome |
|
Carious teeth, Mandibular prognathia, Craniosynostosis, Abnormality of the cervical spine, Abnorm... |
ORPHA:1299 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Micrognathia, Short stature, Clinodactyly, Kyphosis, Sacral dimple, Syndactyly, Macr... |
OMIM:616894 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypopl... |
OMIM:276820 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respiratory distress, Acute ... |
ORPHA:264675 |
Cowden Syndrome 1 |
|
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... |
OMIM:158350 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple non-erupting secondary teeth... |
OMIM:273050 |
Acitretin/Etretinate Embryopathy |
|
Micrognathia, Abnormality of the calcaneus, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia... |
ORPHA:40366 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Metatarsus adductus, Micrognathia, Failure to thrive, Contractures of the joints of the lower lim... |
ORPHA:513456 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea, Postaxial hand polydactyly |
OMIM:617622 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short stature, Short phalanx of finger, Proximal p... |
OMIM:268305 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Intrauterine growth retardation, Short stature, Rickets, Growth delay, Respirat... |
OMIM:613658 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:241310 |
Cerebellar-Facial-Dental Syndrome |
|
Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... |
ORPHA:444072 |
Acrodysostosis With Multiple Hormone Resistance |
|
Spinal canal stenosis, Intrauterine growth retardation, Hypoplasia of the nasal bone, Cone-shaped... |
ORPHA:280651 |
Cholesterol Pneumonia |
|
Tachypnea, Death in infancy, Cough, Pneumonia |
OMIM:215030 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Failure to thrive, Cough, Respiratory distress, Respiratory failure |
OMIM:263000 |
Aarskog Syndrome, Autosomal Dominant |
|
Single transverse palmar crease, Mild short stature, Pes planus, Genu recurvatum, Radial deviatio... |
OMIM:100050 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly |
OMIM:614684 |
Goldberg-Shprintzen Syndrome |
|
Tapered finger, Small hand, Hypoplasia of the maxilla, Short neck, Clinodactyly, Microcephaly |
OMIM:609460 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Micrognathia, Retrognathia, Episodic tachypnea |
ORPHA:163961 |
Osteogenesis Imperfecta, Type I |
|
Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures, Osteopenia, J... |
OMIM:166200 |
Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, Intrauterine growth retardation, Elbow ankylosis, Rocker bottom foot, Talipes equin... |
OMIM:208150 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Brachydactyly, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal... |
ORPHA:306542 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Death in infancy, Early ossification of capital femoral epiphyses, Short sta... |
OMIM:208500 |
Angelman Syndrome |
|
Mandibular prognathia, Obesity, Hypoplasia of the maxilla, Secondary microcephaly, Scoliosis |
OMIM:105830 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Foot polydactyly, Hand polydactyly, Biparietal narrowing, Scoliosis |
ORPHA:2318 |
Joubert Syndrome |
|
Abnormal pattern of respiration, Abnormal form of the vertebral bodies, Apnea, Episodic tachypnea... |
ORPHA:475 |
Propionic Acidemia |
|
Short stature, Tachypnea, Failure to thrive, Osteoporosis, Apnea |
OMIM:606054 |
Dyskeratosis Congenita |
|
Carious teeth, Intrauterine growth retardation, Short stature, Osteoporosis, Palmoplantar keratod... |
ORPHA:1775 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus |
OMIM:616367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Malar flattening, Failure to thrive |
OMIM:220111 |
Hyperparathyroidism, Neonatal Severe |
|
Tachypnea, Failure to thrive, Metaphyseal irregularity, Recurrent fractures, Dyspnea |
OMIM:239200 |
Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress, Large for gestational age |
ORPHA:45452 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Intercostal retractions, Re... |
ORPHA:91359 |
Rapp-Hodgkin Syndrome |
|
Hypoplasia of the maxilla, Syndactyly, Short stature |
OMIM:129400 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Umbilical hernia, Inguinal hernia |
OMIM:601499 |
Tetanus |
|
Tachypnea, Stiff neck, Trismus, Respiratory distress |
ORPHA:3299 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Relative macrocephaly, Intrauterine growth retardation, Hemivertebr... |
ORPHA:500150 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Microcephaly, Episodic tachypnea |
OMIM:615160 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Pneumonia, Abnormality of the upper limb, Abnormality of the lower limb, Fasciitis, Ta... |
ORPHA:36234 |
Floating-Harbor Syndrome |
|
Carious teeth, Short clavicles, Growth delay, Humeral pseudarthrosis, Short stature, Small for ge... |
ORPHA:2044 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Citrullinemia Type I |
|
Tachypnea, Ankle clonus, Failure to thrive |
ORPHA:247525 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Focal Dermal Hypoplasia |
|
Omphalocele, Short stature, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delayed erupt... |
OMIM:305600 |
Branchiooculofacial Syndrome |
|
Micrognathia, Intrauterine growth retardation, Malar flattening, Proximal placement of thumb, Kyp... |
OMIM:113620 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Omphalocele, Growth delay, Hypoplasia of the zygomatic bone, Camptodactyly of fin... |
ORPHA:920 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress, Weight loss, Growth delay |
ORPHA:79242 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... |
OMIM:610978 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Agenesis of lateral incisor, Abnormality of dental eruptio... |
ORPHA:199306 |
Rhombencephalosynapsis |
|
Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finger syndactyly, M... |
ORPHA:59315 |
Double Outlet Right Ventricle |
|
Tachypnea, Abnormality of cartilage of external ear, Short stature, Failure to thrive |
ORPHA:3426 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Failure to thrive, Decreased DLCO, Res... |
OMIM:300770 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Growth delay, Talipes equinovarus |
OMIM:222748 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... |
ORPHA:79126 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma |
OMIM:106260 |
Nivelon-Nivelon-Mabille Syndrome |
|
Severe short stature, Microcephaly, Short metacarpal, Short phalanx of finger, Micromelia, Brachy... |
OMIM:600092 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
Joubert Syndrome 9 |
|
Apnea, Scoliosis, Episodic tachypnea |
OMIM:612285 |
Joubert Syndrome 2 |
|
Abnormal foot morphology, Central apnea, Failure to thrive, Episodic tachypnea, Macrocephaly, Neo... |
OMIM:608091 |
Elsahy-Waters Syndrome |
|
Abnormality of the vertebral column, Mandibular prognathia, Malar flattening, Delayed eruption of... |
OMIM:211380 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Small for gestational age, Tachypnea, Episodic tachypnea, Respiratory distress, Macroc... |
ORPHA:26793 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Hypoplasia of the maxilla, Cough, Failure to thrive |
ORPHA:238468 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus |
ORPHA:3044 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Growth delay |
ORPHA:782 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
Atrial Septal Defect, Ostium Primum Type |
|
Abnormal respiratory system physiology, Tachypnea, Failure to thrive, Pulmonary arterial hyperten... |
ORPHA:99106 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea, Death in infancy, Microcephaly |
OMIM:201475 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Joint stiffness, Tachypnea, Failure to thrive |
OMIM:615934 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Genitopatellar Syndrome |
|
Micrognathia, Patellar aplasia, Hip contracture, Talipes equinovarus, Congenital hip dislocation,... |
OMIM:606170 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Broad finger, Screwdriver-shaped incisors, Mulberry molar, Short... |
OMIM:302350 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hand polydactyly, Hypoplasia of the ... |
OMIM:129900 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Macrocephaly, Neonatal breathing dysregulation, Postaxial foot... |
OMIM:213300 |
Craniofacial Microsomia |
|
Micrognathia, Hemivertebrae, Malar flattening, Vertebral hypoplasia, Block vertebrae, Hypoplasia ... |
OMIM:164210 |
Joubert Syndrome 3 |
|
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:608629 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Intrauterine growth retardation, Small for gestational age, Tachypnea, Respiratory fai... |
ORPHA:555874 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea, Hypoxemia, Small for gestational age, Failure to thrive |
ORPHA:860 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger, Delay... |
OMIM:208060 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Pallister-Killian Syndrome |
|
Omphalocele, Delayed eruption of teeth, 11 pairs of ribs, Short toe, Short phalanx of finger, Umb... |
OMIM:601803 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Failure to thrive, Elevated pulmonary artery pressure, Pulmonary v... |
ORPHA:1329 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hypoplasia of the maxilla, Ectrodact... |
OMIM:604292 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion |
ORPHA:542323 |
Hartsfield Syndrome |
|
Craniosynostosis, Syndactyly, Hypoplasia of the frontal bone, Ectrodactyly, Microcephaly |
OMIM:615465 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Craniosynostosis, Maxillozygomatic hypoplasia |
ORPHA:1790 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Weight loss, Apnea, Microcephaly |
ORPHA:20 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Weight loss, Cough |
ORPHA:134 |
Coronary Arterial Fistula |
|
Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Pedal edema |
ORPHA:2041 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Hypoplasia of the maxilla, Taurodontia, Respiratory distress |
OMIM:305100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Rh Deficiency Syndrome |
|
Tachypnea, Hypoxemia, Intrauterine growth retardation |
ORPHA:71275 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis, Failure to thrive |
OMIM:618278 |
Arima Syndrome |
|
Tachypnea, Dyspnea, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:243910 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Agenesis of molar |
OMIM:313500 |
Pyruvate Carboxylase Deficiency |
|
Tachypnea, Growth delay, Abnormal pattern of respiration, Failure to thrive |
ORPHA:3008 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Cholera |
|
Tachypnea, Hyperventilation, Palmoplantar cutis laxa, Aspiration pneumonia |
ORPHA:173 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation |
ORPHA:90068 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Cough, Failure to thrive |
ORPHA:137675 |
Truncus Arteriosus |
|
Tachypnea, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth retardation |
ORPHA:3384 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Malar flattening, Hypoplasia of the frontal bone |
OMIM:229400 |
Proboscis Lateralis |
|
Abnormality of ethmoid bone, Aplasia/Hypoplasia of the maxilla, Abnormality of the maxillary sinu... |
ORPHA:141099 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea, Failure to thrive |
ORPHA:415 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Goodpasture Syndrome |
|
Crackles, Tachypnea, Weight loss, Cough, Exertional dyspnea, Increased DLCO, Restrictive ventilat... |
OMIM:233450 |
Scorpion Envenomation |
|
Tachypnea, Abnormal nasal mucus secretion |
ORPHA:466677 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla |
OMIM:180500 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Hypocapnia, Crackles |
ORPHA:466650 |
Aortic Arch Interruption |
|
Tachypnea, Exertional dyspnea, Pedal edema, Respiratory distress |
ORPHA:2299 |
Isolated Exencephaly |
|
Abnormality of facial skeleton, Hypoplasia of the frontal bone |
ORPHA:563612 |
Joubert Syndrome 5 |
|
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:610188 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |