Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Eiken Syndrome |
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Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Camptosynpolydactyly, Complex |
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Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Multiple Epiphyseal Dysplasia Type 1 |
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Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
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Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Vertebral Hypoplasia With Lumbar Kyphosis |
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Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Distal Arthrogryposis Type 1 |
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Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger, Abnormal... |
ORPHA:1146 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Primary Basilar Invagination |
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Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Santos Syndrome |
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Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
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Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Osteomesopyknosis |
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Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Abnormalit... |
OMIM:613752 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Ventriculomegaly, Abnormality of the dentition, Mild malformation of cortical development, Dyspla... |
ORPHA:500166 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Beukes Hip Dysplasia |
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Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
Bardet-Biedl Syndrome 11 |
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Polydactyly |
OMIM:615988 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Intellectual Disability And Myopathy Syndrome |
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Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
Brachyolmia Type 1, Hobaek Type |
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Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Acrodysplasia Scoliosis |
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Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Polydactyly, Postaxial, Type A8 |
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Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Bardet-Biedl Syndrome 14 |
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Polydactyly |
OMIM:615991 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Galloway-Mowat Syndrome 8 |
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Microcephaly, Hypoalbuminemia, Enamel hypoplasia, Focal cortical dysplasia, Cerebral cortical atr... |
OMIM:618349 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability, Microcephaly |
OMIM:251250 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Jawad Syndrome |
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Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Microcep... |
OMIM:606612 |
Clark-Baraitser syndrome |
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Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermil... |
OMIM:300602 |
Osebold-Remondini Syndrome |
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Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondylosis, Cervical |
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Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Coxopodopatellar Syndrome |
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Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Epiphyseal Dysplasia, Multiple, 4 |
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Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Intellectual Disability, Birk-Barel Type |
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Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... |
ORPHA:166108 |
Pyle Disease |
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Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Galloway-Mowat Syndrome 6 |
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Microcephaly, Delayed skeletal maturation, Downturned corners of mouth, Wide mouth, High palate, ... |
OMIM:618347 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Lethal Faciocardiomelic Dysplasia |
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Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Alg1-Cdg |
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Kyphosis, Limitation of joint mobility, Cerebral atrophy, Hypoalbuminemia, Scoliosis, Progressive... |
ORPHA:79327 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Sacral dimple, Ventriculomegaly, Microcephaly, Cleft palate, Thin vermilion border, Narrow mouth,... |
OMIM:615502 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... |
ORPHA:429 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Pseudohypoaldosteronism, Type Iib |
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Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Incisors, Shovel-Shaped |
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Shovel-shaped maxillary central incisors |
OMIM:147400 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Focal T2 hyperintense basal ganglia lesion, Hypoalbuminemia |
OMIM:614652 |
Gorlin Syndrome |
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Mandibular prognathia, Vertebral fusion, Cerebral calcification, Carious teeth, Hydrocephalus, He... |
ORPHA:377 |
Acropectoral Syndrome |
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Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Maxillonasal Dysplasia, Binder Type |
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Short nose, Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae |
OMIM:155050 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Analbuminemia |
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Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Alg6-Cdg |
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Macroglossia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis |
ORPHA:79320 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Pseudohypoaldosteronism, Type Iie |
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Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Aase-Smith Syndrome |
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Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo... |
ORPHA:916 |
Bardet-Biedl Syndrome 10 |
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Polydactyly |
OMIM:615987 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Hypertriglyceridemia, Microcephaly, Periventricular cysts, Hypoalbuminemia, Scoliosis, Joint hype... |
OMIM:619013 |
Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
Lissencephaly 4 |
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Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Primary microcephaly, A... |
OMIM:614019 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Liang-Wang Syndrome |
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Thin upper lip vermilion, Diastema, Wide nasal bridge, Cerebral atrophy, Gingival overgrowth, Dow... |
OMIM:618729 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ab... |
ORPHA:2631 |
Dentinogenesis Imperfecta |
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Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ... |
OMIM:222600 |
Filippi Syndrome |
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Microcephaly, Wide nasal bridge, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, ... |
OMIM:272440 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy |
OMIM:607250 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Short neck, Microcephaly, Hemivertebrae... |
OMIM:615583 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli... |
OMIM:601216 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... |
ORPHA:90650 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hyperlordosis, Abnormality of the dentition, Dysplastic corpus callosum, Delayed s... |
ORPHA:557003 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Hypoplasia of the femoral head, Long fin... |
OMIM:610797 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Hypertriglyceridemia, High palate, Primary microcephaly |
OMIM:618010 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... |
OMIM:177170 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Elevated circulating creatine kinase concentration, Microcephaly, Short neck, Dysplastic corpus c... |
OMIM:619955 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short neck, Hypoplasia of th... |
ORPHA:915 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:208920 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Microcephaly, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High p... |
OMIM:613684 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Cleft palate, Genu valgum,... |
OMIM:614078 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... |
OMIM:146000 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, ... |
OMIM:620156 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu... |
OMIM:614815 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly |
OMIM:612913 |
Diaphanospondylodysostosis |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pachygyria, Narrow mouth, Delayed skeletal maturation, Wide nasal brid... |
OMIM:235510 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... |
OMIM:309620 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte... |
OMIM:244600 |
Nephrotic Syndrome, Type 11 |
|
Micrognathia, Cleft lip, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia, Smooth... |
OMIM:616730 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... |
OMIM:214300 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi... |
OMIM:164900 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Microcephaly, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:216550 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Hydrocephalu... |
ORPHA:2409 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Dysphagia, Intrauterine growth retardation, Camptodactyly |
OMIM:619751 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Microcephaly... |
OMIM:178110 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Microcephaly, Abnormality of the dentition, ... |
ORPHA:96169 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal... |
OMIM:613091 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Cleft soft palate,... |
ORPHA:2756 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Hypoplasia of the corpus callosum, ... |
OMIM:618528 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Genu recurvatum, Kyphosis, Narrow palate, Short upper lip, S... |
ORPHA:364028 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv... |
ORPHA:1803 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Carp... |
OMIM:605282 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Elevated circulating creatinine concentration, Hypoalbuminemia, Long philtrum, Campto... |
OMIM:608104 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Short neck, Craniosynostosis, Micrognathia, Si... |
ORPHA:284417 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic defects of... |
ORPHA:83468 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ... |
OMIM:258860 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... |
OMIM:249700 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Microcephaly, Micrognathia, Flexio... |
OMIM:616549 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, Downturned c... |
OMIM:617333 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Xfe Progeroid Syndrome |
|
Microcephaly, Hypoalbuminemia, Scoliosis, Premature loss of teeth, Enamel hypoplasia, Ventriculom... |
OMIM:610965 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ... |
OMIM:184260 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1837 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum |
OMIM:613162 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation |
ORPHA:1506 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Macrodontia, Microcephaly, Downturned corners of mouth, Tooth agenesis, C... |
OMIM:618731 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,... |
ORPHA:93307 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology, Palmoplantar keratoderma |
ORPHA:2206 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, A... |
ORPHA:3035 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Even-Plus Syndrome |
|
Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft vertebrae, High palate,... |
OMIM:616854 |
Galloway-Mowat Syndrome 3 |
|
Microcephaly, Micrognathia, Narrow mouth, Hip dislocation, Simplified gyral pattern, Cerebral atr... |
OMIM:617729 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... |
OMIM:618067 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... |
OMIM:610967 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Pontocerebellar Hypoplasia, Type 12 |
|
Micrognathia, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Joint contrac... |
OMIM:618266 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Cerebellofaciodental Syndrome |
|
Short neck, Microcephaly, Delayed skeletal maturation, Dental malocclusion, Genu valgum, Taurodon... |
OMIM:616202 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Mala... |
ORPHA:2522 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Cleft palate,... |
OMIM:620269 |
Shox-Related Short Stature |
|
Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, Low... |
ORPHA:314795 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Microretrognathia, Agyria, Microcephaly, Hypoplastic anterior limbs of ... |
ORPHA:171680 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... |
ORPHA:93315 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Long nose, Hypopl... |
OMIM:257850 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... |
OMIM:617926 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic girdle bone morphology,... |
ORPHA:1788 |
Leishmaniasis |
|
Hypoalbuminemia, Abnormal oral mucosa morphology, Abnormal oral cavity morphology |
ORPHA:507 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Intestinal mal... |
OMIM:617866 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Short neck, Microcephaly, Micrognathia, Delayed skeletal maturation, Dent... |
ORPHA:444072 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Immunodeficiency 32B |
|
Sinusitis, Cerebral calcification, Hypoalbuminemia |
OMIM:226990 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p... |
OMIM:256050 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal upper limb epip... |
ORPHA:93311 |
Mucopolysaccharidosis-Plus Syndrome |
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Cerebral calcification, Short neck, Microcephaly, Flexion contracture, Wide nasal bridge, Macrogl... |
OMIM:617303 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Thi... |
ORPHA:488635 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Micrognathia, Kyphosis, P... |
OMIM:618291 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Tented upper lip vermilion, Exaggerated cupid's bow, Dysplastic corpus callosum, Gingival overgro... |
OMIM:616900 |
Meckel Syndrome, Type 11 |
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Polydactyly |
OMIM:615397 |
Immunodeficiency 27A |
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Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
Trichodentoosseous Syndrome |
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Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Marshall Syndrome |
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Malar flattening, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Thick lower lip verm... |
OMIM:154780 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Alg13-Cdg |
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Abnormal lateral ventricle morphology, Long philtrum |
ORPHA:324422 |
Al-Gazali-Bakalinova Syndrome |
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Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Polymicrogyria Due To Tubb2B Mutation |
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Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ce... |
OMIM:242150 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hypoalbuminemia |
OMIM:618805 |
Aicardi-Goutieres Syndrome 9 |
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Cerebral calcification, Microcephaly, Basal ganglia calcification, Osteoporosis, Diffuse leukoenc... |
OMIM:619487 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Dysplastic corpus callosum, Tongue fasciculations, Microcephaly |
OMIM:618276 |
Bardet-Biedl Syndrome 9 |
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Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Dandy-Walker malformation, Delayed closure of the anterior fontanelle, Microcephaly, Lateral vent... |
OMIM:618736 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Downturned corners of mouth... |
OMIM:613443 |
Laron Syndrome |
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Limb undergrowth, Short long bone |
OMIM:262500 |
Generalized Pustular Psoriasis |
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Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Arthritis, Hypoal... |
ORPHA:247353 |
Alg12-Cdg |
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Hyponatremia, Thin upper lip vermilion, Ventriculomegaly, Ulnar deviation of the wrist, Micrognat... |
ORPHA:79324 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Kniest Dysplasia |
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Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Immunodeficiency 43 |
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Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Enla... |
OMIM:600081 |
Galloway-Mowat Syndrome 1 |
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Ventriculomegaly, Microcephaly, Micrognathia, Cerebral atrophy, Wide mouth, Joint contracture of ... |
OMIM:251300 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Epiphyseal stippling, Colpocephaly, Pachygyria, Wide nasal bridge |
OMIM:614870 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Atelosteogenesis, Type Iii |
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Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi... |
OMIM:108721 |
Glutamine Deficiency, Congenital |
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Hypoglutaminemia, Flexion contracture, Wide nasal bridge, Hyperammonemia, Subependymal cysts, Lat... |
OMIM:610015 |
Ataxia-Oculomotor Apraxia 4 |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Refractory Celiac Disease |
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Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
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Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,... |
OMIM:618961 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Decreased serum iron, Carious teeth, Narrow mouth, Flexion contracture, Decreased serum zinc, Hyp... |
ORPHA:89842 |
Lateral Meningocele Syndrome |
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Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Hydroceph... |
OMIM:130720 |
Acrocephalopolydactyly |
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Limb undergrowth, Short long bone, Brachydactyly |
ORPHA:221054 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Tooth Agenesis, Selective, 9 |
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Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Fibrochondrogenesis 2 |
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Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... |
OMIM:614524 |
Kniest Dysplasia |
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Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... |
OMIM:156550 |
Tooth Agenesis, Selective, X-Linked, 1 |
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Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Increased serum pyruvate, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal... |
OMIM:617668 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, High palate, Talipes equino... |
OMIM:201170 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Cerebral calcification, Lumbar hyperlordosis, Short neck, Joint stiffness, Hydrocephalus, Flexion... |
ORPHA:505248 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Moebius Syndrome |
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Syndactyly, Brachydactyly, Clinodactyly, Split hand, Dysphagia, Abnormal pelvic girdle bone morph... |
OMIM:157900 |
Amelogenesis Imperfecta, Type Ic |
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Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hydrocephalu... |
OMIM:613686 |
Grant Syndrome |
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Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Abnormal metaphy... |
ORPHA:935 |
Grant Syndrome |
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Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Dyggve-Melchior-Clausen Disease |
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Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Short neck, Micrognathia, Narrow mouth, Partial agenesis of the corpus callosum, Wide nasal bridg... |
OMIM:620250 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Pycnodysostosis |
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Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:265800 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
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Notched primary central incisor, Microcephaly |
OMIM:620062 |
Craniosynostosis 6 |
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Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera... |
OMIM:616602 |
Retinitis Pigmentosa 89 |
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Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Sheldon-Hall Syndrome |
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Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Adducted thumb, Ulnar deviation... |
ORPHA:1147 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Microcephaly |
ORPHA:1445 |
Desbuquois Dysplasia 2 |
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Joint laxity, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wre... |
OMIM:615777 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Kyph... |
OMIM:619244 |
Microphthalmia With Limb Anomalies |
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Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
Congenital Disorder Of Glycosylation, Type Ia |
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Osteopenia, Dilated fourth ventricle, Thin upper lip vermilion, Microcephaly, Kyphosis, Flexion c... |
OMIM:212065 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... |
OMIM:118100 |
Macrophage Activation Syndrome |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Joubert Syndrome 10 |
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Postaxial polydactyly |
OMIM:300804 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Abnormal intervertebral disk morphology, Carious teeth, Delayed skeletal maturation, Abnormality ... |
ORPHA:2701 |
Achondroplasia |
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Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Dentin Dysplasia, Type Ii |
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Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemi... |
OMIM:617093 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Micrognathia, Hydrocephalus, D... |
OMIM:619833 |
Band Heterotopia |
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Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Nance-Horan Syndrome |
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Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Joubert Syndrome 20 |
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4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Limitation of joint... |
OMIM:224400 |
Lamb-Shaffer Syndrome |
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Micrognathia, Microcephaly, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border, ... |
ORPHA:530983 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Knee pain, Hypoalbuminemia |
OMIM:614441 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly |
OMIM:602501 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular o... |
ORPHA:53 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Microcephaly 26, Primary, Autosomal Dominant |
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Microcephaly, Protruding tongue, Dysplastic corpus callosum, Simplified gyral pattern, Wide nasal... |
OMIM:619179 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d... |
ORPHA:90652 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Gastroesophagea... |
OMIM:619721 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... |
ORPHA:1553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis, Microcephaly |
OMIM:619055 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft |
ORPHA:141091 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he... |
OMIM:268310 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... |
OMIM:252100 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Ventriculomegaly, Microcephaly, Cleft u... |
OMIM:610443 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Hip dysplasia, Polyda... |
ORPHA:531151 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High... |
OMIM:618142 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Cleft palate, Abnormal pelvic gi... |
ORPHA:3429 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... |
ORPHA:239 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta, Microcephaly |
OMIM:101805 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... |
OMIM:253000 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... |
ORPHA:1724 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi... |
OMIM:620114 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Microcephaly, Dysplas... |
OMIM:620001 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... |
OMIM:609945 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Enla... |
OMIM:241530 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Microcephaly |
OMIM:617575 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... |
OMIM:269250 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... |
OMIM:146300 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Abnormalit... |
ORPHA:438216 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Cleft pala... |
OMIM:615716 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Megalencephaly, Microdontia, Car... |
OMIM:269300 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Hypercholesterolemia, Tented upper lip vermilion, De... |
ORPHA:819 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Premature osteoarthritis, Flexion contracture, Flared m... |
OMIM:215150 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Femoral-Facial Syndrome |
|
Short femur, Coxa vara, Abnormal fibula morphology, Cleft palate, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated... |
OMIM:150250 |
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 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Dysplastic corpus callosum, Thin vermilion border, Secondary microcephaly, Per... |
OMIM:619737 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... |
OMIM:109400 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye... |
ORPHA:582 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Scoliosis, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Reduced cerebral white matter volume, Accelerated skeletal maturation, ... |
OMIM:617190 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... |
OMIM:614175 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Scoliosis, Enamel... |
OMIM:618205 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... |
ORPHA:94068 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Facet joint arthrosis, Osteoarthritis, ... |
OMIM:618000 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal cer... |
ORPHA:540 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Long nose, Ky... |
ORPHA:2769 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac bones, Preaxi... |
OMIM:616300 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... |
OMIM:277170 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mob... |
ORPHA:3145 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Oral mucosal blisters, Hypoalbuminemia, Smooth tongue, Enamel hypoplasia, Ventr... |
ORPHA:79396 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Wide nasal bridge, Lateral ventricle d... |
ORPHA:79326 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micrognathia, Partial agenesis of the corpus callosum,... |
OMIM:270400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... |
ORPHA:93352 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Microcephaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Tented upper lip vermilion, Microcephaly, Lateral ventricle dilatation, H... |
OMIM:614105 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Congenital Enterovirus Infection |
|
Ventriculomegaly, Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Reduced cerebral white matt... |
OMIM:620075 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion ... |
OMIM:301025 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Osteolysis, Fus... |
OMIM:612852 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Long nose, Wide nasal bridge, Ankle clonus, Lateral ventricle dilatation, High pal... |
OMIM:619995 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Median cleft pal... |
OMIM:169400 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Abnormality of the dentition, Long nose, Dysplastic corpus callosum, Thin lower ... |
ORPHA:363444 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis |
ORPHA:466722 |
Omodysplasia 2 |
|
Short humerus, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic distal humeri, Rh... |
OMIM:164745 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Slc35A2-Cdg |
|
Osteopenia, Cerebral white matter atrophy, Increased circulating thyroglobulin level, Limb joint ... |
ORPHA:356961 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the 5th finger, Joint hypermobility |
OMIM:616362 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo... |
ORPHA:73223 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max... |
ORPHA:87 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Trismus, Deep philtrum, Hyperextensible hand joints, Dental malocclusion, Narro... |
OMIM:227330 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... |
OMIM:271665 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Aicardi Syndrome |
|
Dandy-Walker malformation, Prominence of the premaxilla, Block vertebrae, Microcephaly, Dilated t... |
OMIM:304050 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Microc... |
ORPHA:2919 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, D... |
OMIM:616034 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Microcephaly, Cerebral atrophy, Hypoalbumin... |
OMIM:251880 |
Martsolf Syndrome 2 |
|
Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal... |
OMIM:619420 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte... |
ORPHA:163654 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Congenital contractur... |
OMIM:607596 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Cerebral calcification, Increased bone mineral density, Abno... |
ORPHA:1798 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent fractures, Decreas... |
OMIM:616229 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Micrognathia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Wide mouth, Camptoda... |
OMIM:604273 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Cleft palate |
OMIM:613885 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly, Narrow mouth, Polym... |
OMIM:614833 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Cerebral calcification, Microcephaly, Delayed skeletal maturation, Rick... |
OMIM:613658 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse palmar crease, Elb... |
OMIM:210600 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Microcephaly, Micrognathia, Vertebral clefting, Submucou... |
OMIM:301043 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Short femoral neck, S... |
ORPHA:370930 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat... |
OMIM:618150 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Flexion contracture, Limitati... |
ORPHA:1865 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Congeni... |
ORPHA:565624 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... |
OMIM:253010 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Microcephaly, Micrognathia, Dysplastic corpus callosum, Hypoplas... |
ORPHA:314679 |
Trichohepatoenteric Syndrome 1 |
|
Avascular necrosis of the capital femoral epiphysis, Narrow mouth, Wide mouth, Increased serum ir... |
OMIM:222470 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... |
OMIM:156400 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, High palate, Gastroesophageal reflux, Int... |
OMIM:613792 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu... |
OMIM:619517 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... |
OMIM:613312 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Broad philtrum, Colpocephaly, Hypoplasia of the... |
OMIM:618619 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal... |
OMIM:607323 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Scoliosis, Hy... |
OMIM:617751 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophag... |
OMIM:250250 |
Kbg Syndrome |
|
Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Microcephaly, Delayed skel... |
OMIM:148050 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Agenesis of corpu... |
OMIM:101200 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Kyphoscoliosis, Decreased LDL cholesterol co... |
ORPHA:14 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, High... |
OMIM:271640 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Micrognathia, Persistence of primary t... |
ORPHA:97360 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone pain |
ORPHA:86839 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth ... |
OMIM:601559 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Cleft pa... |
OMIM:200610 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... |
OMIM:277900 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Orofacial cleft, Down... |
OMIM:194190 |
Malan Overgrowth Syndrome |
|
Accelerated skeletal maturation, Narrow mouth, Lateral ventricle dilatation, High palate, Scolios... |
ORPHA:420179 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Abnor... |
ORPHA:364577 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Postaxial polydactyly |
ORPHA:544254 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Short neck, Microcephaly, Fused cervical vertebrae, Colpocephaly, Agene... |
OMIM:609053 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... |
OMIM:610442 |
Al Amyloidosis |
|
Macroglossia, Abnormal salivary gland morphology, Increased circulating NT-proBNP concentration, ... |
ORPHA:85443 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Cerebral calcification, Ventric... |
ORPHA:1855 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Flexion contracture, Submucous cleft hard palate, Epiphyse... |
OMIM:222765 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Microcephaly, Downturned corners of mouth, Lumbar scoliosis, High palate, S... |
OMIM:617796 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Tibial bowing, Congenital bilateral hip d... |
ORPHA:453510 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia, Secondary microcephaly |
OMIM:618329 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Micrognathia, Kyphosis, Wide mouth, Colpocephaly, High palate, Thick vermilion b... |
ORPHA:261250 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... |
OMIM:259700 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Microcephaly |
OMIM:615508 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion, Microcephaly |
ORPHA:370010 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... |
ORPHA:508498 |
Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
Aicardi Syndrome |
|
Ventriculomegaly, Prominence of the premaxilla, Block vertebrae, Microcephaly, Cleft upper lip, P... |
ORPHA:50 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum,... |
OMIM:619423 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Preaxial polydactyly, Hypopl... |
OMIM:617925 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Postaxial polydactyly, 2-3 toe syndactyly, Cleft palate, Postaxial foot p... |
ORPHA:404440 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth... |
ORPHA:1780 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Metaphyseal widening, Flexion contracture, Short long bone, Narrow g... |
OMIM:263210 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, High palate, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida o... |
OMIM:619227 |
Holoprosencephaly 5 |
|
Microcephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lateral ventricle dilatation, High p... |
OMIM:609637 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Microcephaly, Micrognathia, Contractures of... |
ORPHA:3078 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Joint hyperflexibility, Abnormal pelvic girdle bone... |
ORPHA:1458 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micrognathia, Dysplastic corpus callosum, Wide nasal bridge, Narrow mouth, Hypocholesterolemia |
OMIM:618810 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Thick lower lip vermilion, De... |
OMIM:157980 |
Pontocerebellar Hypoplasia, Type 13 |
|
Thin upper lip vermilion, Macrodontia, Microcephaly, Lateral ventricle dilatation, High palate, S... |
OMIM:618606 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Partial agenesis of the corpus ca... |
ORPHA:300570 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Doors Syndrome |
|
Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre... |
OMIM:241200 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... |
OMIM:615889 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Persistent open anterior fontanelle, Congenital ... |
ORPHA:357058 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Lateral ventricle dilatation, Oligodontia |
OMIM:618330 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Harrod Syndrome |
|
Arachnodactyly, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic girdle bone... |
ORPHA:2115 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... |
OMIM:276820 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Talipes eq... |
OMIM:617022 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... |
OMIM:221770 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Pyloric ... |
OMIM:613848 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ... |
ORPHA:175 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Wide nasal bridge, Lateral ventricle di... |
OMIM:608629 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, S... |
ORPHA:263487 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Hypotriglyceridemia, Hypoalbuminem... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Sho... |
ORPHA:373 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited hip movement... |
OMIM:258315 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Thin upper lip vermilion, Sacral dimple, Craniosynostosis, Microcephaly, Abnormality ... |
ORPHA:363611 |
Duane Retraction Syndrome |
|
Short neck, Microcephaly, Micrognathia, Wide nasal bridge, Abnormal form of the vertebral bodies,... |
ORPHA:233 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, High pa... |
OMIM:620113 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
Orofaciodigital Syndrome V |
|
Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Hamartoma of tongue, Postaxial hand pol... |
OMIM:174300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Intr... |
OMIM:614576 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Microcephaly, Join... |
OMIM:139210 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Flexion ... |
OMIM:616007 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ... |
ORPHA:2148 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil... |
OMIM:261540 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... |
ORPHA:666 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost... |
OMIM:619718 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, High palate, Joint hypermobility |
OMIM:619185 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint hypermobility, Joint stiffness, Oral-pharyngeal dysphagia, Cleft palate, Short long bone, S... |
OMIM:619184 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Microcephaly, Hemivertebrae, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:206900 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Microcephaly, Wide mouth, Lateral ventricle dilatation, Thick vermilion bo... |
ORPHA:85290 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Intrauterine growth retardatio... |
ORPHA:1133 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Kyphosi... |
ORPHA:464738 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Mandibular prognathia, Dental crowding, Microcephaly, Elbow dislocation... |
OMIM:620083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Ventriculomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:613154 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla... |
OMIM:610829 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon... |
OMIM:620352 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, High palate, Gastroesophage... |
OMIM:224690 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact... |
ORPHA:2804 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Absent uvu... |
OMIM:600383 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Submucous cleft hard palate, Abnormal cereb... |
ORPHA:457279 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Elbow flexion contractu... |
OMIM:200980 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:353281 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microcephaly, Cleft upper lip, Basal ganglia calcification, Enamel hypo... |
OMIM:164200 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Tented upper lip vermilion, Microcephaly, Basal ganglia... |
OMIM:617281 |
Cach Syndrome |
|
Microcephaly, Flexion contracture, Nonketotic hyperglycinemia, Cerebral atrophy, Lateral ventricl... |
ORPHA:135 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, S... |
OMIM:300968 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Arachnodactyly, Intestinal malrotation, Craniofacial osteosclerosis, Osteopathia s... |
OMIM:300373 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly |
OMIM:619278 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lateral ventricle dilatation, Joint contracture of the 4th f... |
OMIM:618914 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Kapur-Toriello Syndrome |
|
Short neck, Dysplastic corpus callosum, Orofacial cleft, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Ventriculomegaly, Microcephaly, Carious teeth, Latera... |
OMIM:619229 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thoracic scoliosis, Camptodactyly of finger, Thick lower lip vermilion, Elbow ... |
ORPHA:1692 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Secondary microcephaly, Long... |
OMIM:617854 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial ag... |
OMIM:619103 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Sifrim-Hitz-Weiss Syndrome |
|
Flat acetabular roof, Fused cervical vertebrae, Wormian bones, Bifid uvula, Ventriculomegaly |
OMIM:617159 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyl... |
OMIM:263520 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, ... |
ORPHA:353277 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... |
ORPHA:488627 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mo... |
OMIM:300868 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat... |
ORPHA:99826 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cl... |
ORPHA:2886 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop... |
OMIM:614924 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... |
OMIM:617140 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Micrognathia, Multifocal cerebral white matter ... |
OMIM:600721 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Hypoalbuminemia, Narrow mouth |
ORPHA:79076 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu... |
ORPHA:2524 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Micrognathia, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymi... |
OMIM:614219 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly |
OMIM:615824 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of the capital femor... |
OMIM:231050 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Dental crowding, Microcephaly, Micrognathia, Wide nasal bridge, Gingiva... |
OMIM:615485 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Cleft palate, P... |
OMIM:603671 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal craniosynostosis, Limit... |
ORPHA:221120 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Retrogna... |
ORPHA:544488 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Cleft palate, Deep palmar crease, Polydactyly, Camptodactyly, Cl... |
OMIM:247200 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s... |
OMIM:614099 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Sho... |
OMIM:143095 |
Distal Deletion 10Q |
|
Thin upper lip vermilion, Prominent metopic ridge, Lumbar hyperlordosis, Craniosynostosis, Microc... |
ORPHA:96148 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Pol... |
OMIM:619297 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Ventriculomegaly, Abnormal acetabulum morphology, Absent septum ... |
ORPHA:397715 |
Axial Mesodermal Dysplasia Spectrum |
|
Anorectal anomaly, Tracheoesophageal fistula, Abnormal pelvic girdle bone morphology, Gastroesoph... |
ORPHA:1834 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, High palate, Thick vermilion bo... |
OMIM:618651 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hyperlipidemia, Abnormal primary molar ... |
ORPHA:1830 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Intellectual Disability, Buenos-Aires Type |
|
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, High palate, Reduced bone... |
ORPHA:3079 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Scoliosis |
OMIM:256850 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Oral ulcer, A... |
OMIM:619381 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Short neck, Micrognathia, Tr... |
OMIM:613458 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... |
OMIM:304120 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque... |
OMIM:617137 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Ankle clonus, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Microcephaly, Short neck, Micrognathia, Carious teeth, Alveolar ridge o... |
ORPHA:177907 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Microcepha... |
OMIM:618460 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma of tongue, B... |
OMIM:269860 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Microcephaly, Wide nasal bridge, Cerebral atrophy... |
OMIM:300896 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation... |
OMIM:252500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Talipes equinovarus, Micromelia, Short long bone |
OMIM:224410 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Short lingual frenulum, Flexion contracture, Wide nasal bridge, Lateral ventricle... |
OMIM:619479 |
Noonan Syndrome 14 |
|
Short neck, Kyphosis, High, narrow palate, Wide mouth, Lateral ventricle dilatation, Thick vermil... |
OMIM:619745 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Craniosynostosis, Microcephal... |
OMIM:616268 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Delayed epiphyseal ossificatio... |
OMIM:210710 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dental crowding, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dil... |
OMIM:617296 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Submucous cleft har... |
OMIM:612863 |
Weaver Syndrome |
|
Dysharmonic bone age, Mandibular prognathia, Absent septum pellucidum, Accelerated skeletal matur... |
OMIM:277590 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Choroid plexus cyst, Retrognathia, Abnormal caudate nucleus morphology, Latera... |
ORPHA:293725 |
Chops Syndrome |
|
Microcephaly, High, narrow palate, Downturned corners of mouth, Long philtrum, Tracheomalacia, Ce... |
OMIM:616368 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pyloric stenosis, Pol... |
ORPHA:464306 |
Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal dysphagi... |
ORPHA:404448 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hypoalbuminemia, Osteoporosis |
ORPHA:171 |
6Q Terminal Deletion Syndrome |
|
Joint laxity, Prominent metopic ridge, Short neck, Micrognathia, High, narrow palate, Abnormal ce... |
ORPHA:75857 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Carpal bone hypoplasia, Hiatus h... |
OMIM:601162 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
3Mc Syndrome 3 |
|
Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Cleft palate |
OMIM:248340 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Accelerated skeletal maturation, Hypochloremia |
ORPHA:90794 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Contrac... |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Flared iliac wing, Short long bone, Flattened femoral head, Acetabular dysplasia, B... |
ORPHA:79255 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Hydrocep... |
OMIM:619534 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Wide nasal bridge, Leukoencephalopathy, Cereb... |
ORPHA:572798 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Polydactyly |
ORPHA:314655 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Kyphoscoliosis, Joint stiffness, Micrognathia, Dysplastic corpus callos... |
OMIM:618820 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Dental crowding, Kyphoscoliosis, Dysplastic corpus callosum, Kyphosis, High, narrow... |
OMIM:300967 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Duodenal atresia |
OMIM:243605 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Mandibular prognathia, Joint stiffness, Abnormality of the dentition... |
ORPHA:93 |
Au-Kline Syndrome |
|
Overlapping toe, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Coxa valga, ... |
OMIM:616580 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Downturned corners of mouth, ... |
ORPHA:500150 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, Elevated circul... |
OMIM:614866 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Protruding tongue |
ORPHA:93400 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Smooth philtrum, Microcephaly, Deep philtrum, Wide mouth, Colpocephaly, Hypoplasia of the corpus ... |
OMIM:617260 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Smooth philtrum, Thin ... |
OMIM:619841 |
Bladder Exstrophy And Epispadias Complex |
|
Anteriorly placed anus, Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly |
OMIM:615849 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Abnormality of the dentition, Cortical dysplasia, Thick lower lip vermilion, Pierre... |
OMIM:617557 |
Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Microcephaly, Micrognathia, Flexion contracture, Gingival overgrowth,... |
OMIM:614098 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Narrow mouth, Hypoalbuminemia, Microcephaly |
OMIM:614748 |
Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Cleft palate, Tongue nodules, Short 2nd toe, Lobulated tongue, P... |
OMIM:311200 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Microdontia, Advanced eruption of teeth, J... |
OMIM:615873 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Micrognathia, Contracture of the distal interphalangeal j... |
ORPHA:83617 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Intestinal ... |
OMIM:249000 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po... |
OMIM:192350 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Wide nasal bridge, Wide mouth, Fuse... |
OMIM:157800 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... |
ORPHA:2822 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Mandibular prognathia, Multiple joint contractures, Thin upper lip verm... |
ORPHA:79318 |
Joubert Syndrome 14 |
|
Cleft palate, Postaxial polydactyly |
OMIM:614424 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Overla... |
OMIM:300960 |
Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Microcephaly, Micrognathi... |
OMIM:606170 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Cranio... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Cranio... |
ORPHA:352665 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Hyperalaninemia |
OMIM:619847 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polydactyly, High, narr... |
OMIM:614976 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Wormian bones, Microcephaly, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, ... |
OMIM:616546 |
Degcags Syndrome |
|
Osteopenia, Syndactyly, Toe syndactyly, Jejunal atresia, Craniosynostosis, Protruding tongue, Ora... |
OMIM:619488 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Joint hypermo... |
ORPHA:457284 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Flexion contracture, Polydactyly, Gastroesophageal reflux |
ORPHA:17 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hydrocephalus, Hemiver... |
OMIM:164210 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth |
OMIM:300952 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Craniosynostosis, Postaxial hand polydactyly, Narrow palate, Cleft palate,... |
OMIM:605627 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Postaxial hand polydactyly, Cleft palate,... |
OMIM:613610 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Abnormality of canine, Wide nasal bridge, Colpocephaly, Widely spaced t... |
ORPHA:477993 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Dysplastic corpus callosum, W... |
OMIM:619426 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal fore... |
ORPHA:3404 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Short hard palate, ... |
OMIM:180700 |
Rabson-Mendenhall Syndrome |
|
Furrowed tongue, Macroglossia, High palate, Polydactyly, Intrauterine growth retardation |
ORPHA:769 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... |
OMIM:610168 |
Pallister-Hall Syndrome |
|
Bifid uvula, Mesoaxial polydactyly, Radial bowing, Microglossia, Polydactyly affecting the 4th fi... |
ORPHA:672 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Hyperextensible thumb, Joint laxity, Congenital hip dislocation, Hallux valgus, Overl... |
ORPHA:480880 |
Bloom Syndrome |
|
Malar flattening, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Microcephaly |
OMIM:210900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue furrow, Short... |
OMIM:312870 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Dysplastic corpus callos... |
ORPHA:466791 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Dysp... |
ORPHA:268261 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Monosomy 9Q22.3 |
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Palmar pits, Joint hyperflexibility, Polydactyly |
ORPHA:77301 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Wide nasal bridge, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Legius Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Desmoid tumors |
ORPHA:137605 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Cleft palate, Hip dyspla... |
ORPHA:2729 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Hydrocep... |
OMIM:306955 |
Witteveen-Kolk Syndrome |
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High, narrow palate, Cortical dysplasia, Short philtrum, High palate, Hyperplasia of the maxilla,... |
OMIM:613406 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Kabuki Syndrome 1 |
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Joint dislocation, Congenital hip dislocation, Microcephaly, Micrognathia, Abnormality of the den... |
OMIM:147920 |
Mullegama-Klein-Martinez Syndrome |
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Cleft palate, Submucous cleft of soft and hard palate, Polydactyly, Clinodactyly of the 5th finge... |
OMIM:301022 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Colpocephaly, Agenesis of co... |
OMIM:309801 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, Short philtrum, Dilated third v... |
OMIM:619575 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Thin vermilion border, High... |
OMIM:619869 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia |
ORPHA:75565 |
Cog1-Cdg |
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Osteopenia, Rhizomelia, Coxa valga, Flat acetabular roof, Short long bone, High palate, Talipes e... |
ORPHA:263508 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Orofacial cleft, High palate, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Cleft upper l... |
OMIM:607872 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Osteopenia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology, Median cleft lip a... |
ORPHA:95494 |
Orofaciodigital Syndrome Xiv |
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Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, Preaxial polydactyly, Aplasia of t... |
OMIM:615948 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Large basal gangl... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Large basal gangl... |
ORPHA:261552 |
Choreoacanthocytosis |
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Caudate atrophy, Temporomandibular joint crepitus, Elevated circulating creatine kinase concentra... |
ORPHA:2388 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Cerebral calcification, Osteomalacia, Abnormal calcification of the carp... |
ORPHA:51608 |
Microphthalmia, Syndromic 1 |
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Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Microcephaly, Cleft upper lip, High, narro... |
OMIM:309800 |