Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Midface retrusion, Sh... |
OMIM:250215 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Midface re... |
OMIM:269250 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Short femur, Hypop... |
OMIM:619598 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Beaking of vertebral bod... |
OMIM:223800 |
Acrodysostosis |
|
Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Midface retrus... |
ORPHA:950 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... |
OMIM:118651 |
Cleidocranial Dysplasia |
|
Brachycephaly, Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia... |
ORPHA:1452 |
Omodysplasia 2 |
|
Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow... |
OMIM:164745 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizom... |
ORPHA:2831 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Ir... |
ORPHA:1856 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Midface retrusion... |
OMIM:108720 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses of the... |
OMIM:210720 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... |
OMIM:228520 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Short foot, Abdominal ... |
ORPHA:85166 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity... |
ORPHA:240 |
3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Midface retrusion, Everted lower lip... |
ORPHA:2616 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Sclerotic scapulae, Sh... |
OMIM:601376 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Hypoplastic acetabulae, Hypoplastic facial bones, Beaking of vertebral b... |
OMIM:607326 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Midface retrusion, Micromelia, Short femur, ... |
ORPHA:440354 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Delayed ossification of pubic rami, Rhizomelia, Short stature, High palate, Micrognathia, Hip dis... |
OMIM:602471 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Midface retrusion, Shorte... |
OMIM:271700 |
Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Metaphyseal irregularity, Short rib... |
OMIM:187600 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Disproportionate short-trunk short ... |
OMIM:200600 |
Autosomal Dominant Omodysplasia |
|
Ambiguous genitalia, Rhizomelia, Short 1st metacarpal, Bifid scrotum, Patellar dislocation, Micro... |
ORPHA:93328 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short femoral neck, Short stature, Sinu... |
OMIM:616716 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Delayed eruption of teeth, Flat... |
OMIM:612350 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio... |
ORPHA:85188 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... |
ORPHA:1505 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyse... |
OMIM:222765 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Disproportionate short-trunk... |
OMIM:613330 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Facial muscle hypertrophy, Myotonia, Myotonia of the upper limb, EMG: myopa... |
ORPHA:684 |
Brachydactyly Type A1 |
|
Short foot, Short stature, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, ... |
ORPHA:93388 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Midface retrusion, Elbow dislocation, Phocomelia, Short 2nd metacarpal, Lat... |
OMIM:171480 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Toe syndactyly, Cachexia, Biparietal narrowing, Pes cavus, Short palm, P... |
ORPHA:85293 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Radial deviation of the hand, Short 5th finger, Small for gestational age, Microgna... |
OMIM:227270 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... |
OMIM:147891 |
Three M Syndrome 2 |
|
Short 5th finger, Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperl... |
OMIM:612921 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Platys... |
OMIM:187601 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Prominent nose, Finger syndactyly, Kyphosis, Abnormality of the elbow, Turricephaly, Vertebral se... |
ORPHA:1005 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... |
OMIM:608940 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Broad foot, Midface retrusion, Limb undergrowth, Short palm, Pseudoarthr... |
OMIM:166250 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide nasal bridge, Short stature, Abnorm... |
ORPHA:3079 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi... |
OMIM:184255 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Convex nasal ridge, Short first met... |
OMIM:613684 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Decreased body weight, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ul... |
ORPHA:357175 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Decreased body weight, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ul... |
OMIM:615162 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Midface retrusion, Pectus ... |
ORPHA:1327 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Abnormal carpal morphology, Coxa valga, Increased carrying ang... |
OMIM:127300 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Depression... |
OMIM:619565 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Severe postn... |
OMIM:249600 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Apl... |
ORPHA:75508 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Wide nose, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radi... |
OMIM:607143 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short stature, Elbow flexion... |
ORPHA:93333 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho... |
ORPHA:40 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Hypopla... |
OMIM:602613 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Narrow palate, Finger syndactyly, Short stature, Vertebra... |
ORPHA:1323 |
Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Hypopla... |
ORPHA:61 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Short stature, Abnormal mor... |
ORPHA:2019 |
Acrocephalopolydactyly |
|
Oxycephaly, Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Shor... |
ORPHA:221054 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Intrauterine growth re... |
ORPHA:1972 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Micrognat... |
OMIM:119600 |
Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:1453 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Pec... |
OMIM:252500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ... |
OMIM:112910 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Microgna... |
ORPHA:2256 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Hip ... |
ORPHA:1858 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... |
OMIM:614091 |
Pycnodysostosis |
|
Convex nasal ridge, Micrognathia, Increased bone mineral density, Midface retrusion, Hepatospleno... |
ORPHA:763 |
Metatropic Dysplasia |
|
Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportionate short-trunk short ... |
OMIM:156530 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Rhizomelia, Platyspondyly, Brachydactyly, Short metatarsal, Deformed... |
OMIM:601438 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Femoral-Facial Syndrome |
|
Micrognathia, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus, Orofacial ... |
ORPHA:1988 |
Tetraploidy |
|
Radial club hand, Convex nasal ridge, Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal ... |
ORPHA:3305 |
Filippi Syndrome |
|
Ambiguous genitalia, Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, I... |
OMIM:272440 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Aplasia/Hypop... |
OMIM:612447 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Widely-spaced incisors, Tapered finger, Metaphy... |
OMIM:601668 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... |
OMIM:234250 |
Hypochondroplasia |
|
Widened interpedicular distance, Genu varum, Short femoral neck, Short long bone, Macrocephaly, B... |
OMIM:146000 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Inappropriate behavior, Memory impairment, Cognitive impairment, Parkinsonism, Rigidity, ... |
ORPHA:401901 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Hip dislocation, Rudimentary to absent tibiae, Orofacial cleft... |
ORPHA:958 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Limb und... |
OMIM:151210 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra... |
OMIM:186500 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho... |
ORPHA:93430 |
Achondrogenesis Type 1A |
|
Short thorax, Short foot, Abnormal enchondral ossification, Long philtrum, Micrognathia, Multiple... |
ORPHA:93299 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Short femur, Hypertrophic ca... |
OMIM:616897 |
Achondroplasia |
|
Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Short femur, Limited elbow extensio... |
OMIM:100800 |
Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, Short middle phalanx of toe, Plagiocephaly, High palate, Capi... |
OMIM:602849 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Short stature, Abnormality of the wrist, Split hand, Microcephaly, Micr... |
ORPHA:2491 |
Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... |
ORPHA:217340 |
Cenani-Lenz Syndrome |
|
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... |
ORPHA:3258 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Thoracic hypoplasia, Wide nasal bridge, Plagiocephaly, Micrognathia, Epi... |
ORPHA:96334 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Midface retrusion, Limb undergrowth, Lacunar halos around chon... |
OMIM:256050 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Wide nasal bridge, Midface retrusion, Limb undergrowth, Short metatarsal... |
OMIM:617102 |
Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Micrognathia, H... |
OMIM:114290 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... |
ORPHA:969 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Short stature, Growth delay, Brac... |
ORPHA:52056 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
Lig4 Syndrome |
|
Brachycephaly, Cutaneous photosensitivity, Convex nasal ridge, Wide nasal bridge, Micrognathia, B... |
ORPHA:99812 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Cousin Syndrome |
|
Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia... |
OMIM:260660 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Mandibular prognathia, Tapered finger, High palate, Relative macrocephaly, A... |
OMIM:618292 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... |
OMIM:251450 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed... |
OMIM:277150 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Symphalangism affecting the phalanges of the hand, Prominent nose, Long philtrum, ... |
ORPHA:1292 |
8P23.1 Microdeletion Syndrome |
|
Enlarged thorax, Tapered finger, High palate, Weight loss, Wide nasal bridge, Short stature, Micr... |
ORPHA:251071 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Short foot, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, ... |
OMIM:300577 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... |
OMIM:184260 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short stature, ... |
OMIM:156510 |
Mulibrey Nanism |
|
Wide nose, Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Wide nasal bridge... |
OMIM:253250 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ... |
ORPHA:2471 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Brachycephaly, Delayed eruption of teeth, Epiphyseal stippling, Midface ... |
OMIM:101800 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus excavatum, Cutaneous syndactyly, ... |
ORPHA:2980 |
Brachydactyly, Type A1 |
|
Slender metacarpals, Radial deviation of the 3rd finger, Absent distal interphalangeal creases, B... |
OMIM:112500 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... |
OMIM:609324 |
Mietens Syndrome |
|
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... |
ORPHA:2557 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger, Acrocyanosis, Severe short stature, Microcephaly |
OMIM:302000 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Kyphosis, Wide anterior fontanel, Lethal short-limbed short stature, Macrocepha... |
ORPHA:1860 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Plagiocephaly, S... |
ORPHA:2021 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Feeding difficulties in infancy, Biparietal narrowing, Abnormal oral frenulum morph... |
ORPHA:2754 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Micrognathia, Poorly ossifi... |
OMIM:619135 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion, Pectus excavatum, Dislocated ra... |
OMIM:268310 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Thin bony cortex, Abnormal trabecular bone morphology, Narro... |
ORPHA:79106 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De... |
ORPHA:2878 |
Satoyoshi Syndrome |
|
Genu varum, Tapered finger, Short stature, Abnormality of the humerus, Abnormality of the ovary, ... |
ORPHA:3130 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Short metacarpal, Double-layered patella, Short stature, Hip dysplasia, Fl... |
OMIM:226900 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... |
OMIM:617405 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Large iliac wing, Abnormality of the wrist, Pectus excavatum, Abnormal zygomatic b... |
ORPHA:2511 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Abnorma... |
OMIM:300604 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Micrognathia, Long thorax, Abnormal palate morphology, Tooth agenesis, Mesome... |
ORPHA:1277 |
Spondyloepiphyseal Dysplasia Congenita |
|
Increased head circumference, Micrognathia, Short femur, Aplasia/hypoplasia involving bones of th... |
ORPHA:94068 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Short stature, Median cleft lip, Syndactyly, Broad nasal t... |
OMIM:300484 |
Stuve-Wiedemann Syndrome 1 |
|
Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... |
OMIM:601559 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnorm... |
OMIM:257850 |
Campomelic Dysplasia |
|
11 pairs of ribs, Kyphosis, Short long bone, Short stature, Hypoplastic inferior ilia, Micrognath... |
ORPHA:140 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ... |
OMIM:144750 |
16Q24.3 Microdeletion Syndrome |
|
High palate, Long philtrum, Kyphosis, Wide mouth, Dysphagia, Micrognathia, Hip dysplasia, Biparie... |
ORPHA:261250 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
Dysostosis Multiplex, Ain-Naz Type |
|
Hypoplastic iliac wing, Flat acetabular roof, Hip dislocation, Abdominal distention, Severe short... |
OMIM:619345 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... |
ORPHA:2249 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Prominent nose, Wide anterior fontanel, Wide ... |
OMIM:201170 |
Image Syndrome |
|
Depressed nasal bridge, Hypogonadism, Micromelia |
ORPHA:85173 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Limb undergrowth, Hepatomegaly, Narrow greater sciatic notch, Splenomegaly,... |
OMIM:602557 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Broad foot, Short phalanx of finger, Brachycephaly, Micrognathia, Prominent nasal ti... |
ORPHA:439822 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro... |
OMIM:616331 |
Craniosynostosis 3 |
|
Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Hallux valgus, Bicoro... |
OMIM:615314 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Abnormal long bone morphology, Short finger, Abnormal pelvic girdle bone morphology, G... |
OMIM:259270 |
Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
Monosomy 18Q |
|
Tapered finger, Biparietal narrowing, Pectus excavatum, Slender build, Talipes equinovarus, Promi... |
ORPHA:1600 |
Tetrasomy X |
|
Premature ovarian insufficiency, Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th fi... |
ORPHA:9 |
Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Hip dislocation, Cleft palate, Abnormality of the tongue, Abnormal form of the vert... |
ORPHA:3098 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fi... |
ORPHA:166016 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Broad foot, Thoracic dysplasia, Median cleft lip, Limb undergrowth, Hepatomegaly... |
OMIM:269860 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... |
OMIM:211350 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Limited elbow extension, Beaking of vertebral bodies, Abnormality of the ... |
ORPHA:239 |
Acrocapitofemoral Dysplasia |
|
Hyperlordosis, Genu varum, Short thorax, Coxa vara, Short stature, Flared iliac wing, Macrocephal... |
ORPHA:63446 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Hyperlordosis, Progressive leg bowing, Abnormality of the dentition, Short lower limb... |
ORPHA:2501 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Coxa valga, Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Flattened e... |
OMIM:618363 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Dysphagia, Myotonia with warm-up phen... |
OMIM:255700 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit... |
ORPHA:216873 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Medial widening of clavicles, Short femoral neck, Coxa vara, Rhizomelia, Flared iliac... |
OMIM:183849 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Wide nasal bridge, Micrognathia, Limb undergrowth, Limited elbow extension,... |
OMIM:614078 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Nasogastric tube feeding in infancy, Convex nasal ridge, Abnormality of upper lip vermillion, Mic... |
ORPHA:251028 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Midface retrusion, Prominent occiput, Elbow dislocation, Cleft palate, Knee disloca... |
OMIM:108721 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Cleft palate, Narrow greater sciatic notch, Genu valgum, Metaphyseal irregularity, Metaphyseal da... |
OMIM:184250 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic... |
OMIM:190350 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Micrognathia, Flared... |
OMIM:609945 |
Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Microdontia, Malformation of the hepatic ductal plate, Pectus excavatum, Evert... |
OMIM:218330 |
Toluene Embryopathy |
|
Tapered finger, Short stature, Micrognathia, Biparietal narrowing, Short nose, Microcephaly, Smoo... |
ORPHA:1920 |
Cornelia De Lange Syndrome 2 |
|
Brachycephaly, Micrognathia, Hypertrophic cardiomyopathy, Smooth philtrum, Postnatal growth retar... |
OMIM:300590 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microcephaly, Absent middle phalanx ... |
OMIM:211369 |
Anauxetic Dysplasia 2 |
|
Hyperlordosis, Coxa valga, Coxa vara, Short femoral neck, Short stature, Posterior wedging of ver... |
OMIM:617396 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Microcephaly, Brachydactyly |
OMIM:233270 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Thick vermilion border, Biparietal narrowing, Clinodactyly of the 5th finger, Micr... |
ORPHA:228396 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Cone-shaped metacarp... |
ORPHA:1240 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Midface retrusion, Bro... |
OMIM:618019 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal ossification involvi... |
ORPHA:1190 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata... |
ORPHA:2779 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose, Hallux valgus, Short stature, Kyphoscoliosis, Microcephaly |
OMIM:615541 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Convex nasal ridge, Lower limb undergrowth, Microcephaly, Forearm undergrowth, Craniosynostosis, ... |
OMIM:218650 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr... |
OMIM:215140 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening, Frontal bossing |
ORPHA:1513 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, ... |
OMIM:251230 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Abd... |
ORPHA:1876 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Delayed eruption of teeth... |
OMIM:143095 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Midface retrusion, Pectus excavatum, Spina bifida occulta, Everted lower lip vermilion, Short toe... |
OMIM:617877 |
Cranioectodermal Dysplasia |
|
Microdontia, Taurodontia, Prominent occiput, Pectus excavatum, Everted lower lip vermilion, Abnor... |
ORPHA:1515 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Midface retrusion, Micromelia... |
ORPHA:1426 |
Lathosterolosis |
|
Toe syndactyly, Micrognathia, Biparietal narrowing, Hepatomegaly, Postaxial hand polydactyly, Thr... |
ORPHA:46059 |
Roifman Syndrome |
|
Irregular capital femoral epiphysis, Hepatosplenomegaly, Broad femoral head, Eosinophilia, Postna... |
ORPHA:353298 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Short stature, Biparietal narrowing, Brachyda... |
ORPHA:1770 |
Perching Syndrome |
|
Cyanosis, High palate, Camptodactyly, Depressed nasal bridge, Scoliosis, Dysphagia, Feeding diffi... |
OMIM:617055 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Cardiofaciocutaneous Syndrome |
|
Feeding difficulties in infancy, Biparietal narrowing, Pectus excavatum, Hypertrophic cardiomyopa... |
ORPHA:1340 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
Roifman Syndrome |
|
Eosinophilia, Hepatomegaly, Splenomegaly, Postnatal growth retardation, Short toe, Irregular vert... |
OMIM:616651 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Tapered finger, Plagiocephaly, Wide nasal bridge, Microdontia, Feeding difficulties, Talipes equi... |
OMIM:619293 |
Codas Syndrome |
|
Short phalanx of finger, Delayed eruption of teeth, Genu valgum, Pes valgus, Congenital hip dislo... |
OMIM:600373 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodact... |
ORPHA:95699 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Short stature, Small f... |
OMIM:608154 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Narrow chest, Diaphyseal thickening, Mac... |
ORPHA:3144 |
Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short stature, Broad thumb, Type B brachydactyly, Short distal phalanx o... |
ORPHA:1471 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Mesomelic short stature, Neonatal short-limb short stature... |
OMIM:156230 |
Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Delayed eruption of teeth, Abnormal trabecular bon... |
ORPHA:2909 |
Alagille Syndrome |
|
Brachycephaly, Micrognathia, Spina bifida occulta, Hepatomegaly, Abnormal rib morphology, Abnorma... |
ORPHA:52 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... |
OMIM:268305 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Lateral clavicle hook, Cleft palate, Talipes ... |
OMIM:613091 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Midface retrusion, Cone-shaped epiphyses of the phala... |
ORPHA:420794 |
Momo Syndrome |
|
Brachycephaly, Thick upper lip vermilion, Delayed eruption of teeth, Taurodontia, Smooth philtrum... |
ORPHA:2563 |
Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f... |
OMIM:112800 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short stature, Micrognathia, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion,... |
ORPHA:2015 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
Non-Distal Monosomy 10Q |
|
Wide nasal bridge, Biparietal narrowing, Clinodactyly of the 5th finger, Bilateral single transve... |
ORPHA:1581 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Brachycephaly, Ankle clonus, Restrictive cardiomyopathy, High palate, Long philtrum, Deep philtru... |
OMIM:615398 |
Hypochondroplasia |
|
Hyperlordosis, Short toe, Genu varum, Abnormality of the elbow, Macrocephaly, Abnormal pelvic gir... |
ORPHA:429 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Kyphosis, Femoral retroversion, Short stature, Macroglossia, Scoliosis, Micromelia, Dy... |
ORPHA:79107 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Convex nasal ridge, Wide nasal bridge, Prominent nasolabial fold, Hip dislocation, Pectus excavat... |
OMIM:619451 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Short femoral neck, Kyphosis, Short stature, Small for gestational age, De... |
OMIM:618392 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, C... |
OMIM:222600 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Midface retrusion, Short femur, Fibular bowi... |
OMIM:613848 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormal rib morphology... |
ORPHA:3268 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Selective tooth agenesis, Micrognathia, Supraventricular arrhythmia, Neoplasm ... |
ORPHA:2959 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... |
ORPHA:2756 |
Dysostosis, Stanescu Type |
|
Brachycephaly, Convex nasal ridge, Increased bone mineral density, Midface retrusion, Pectus exca... |
ORPHA:1798 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Abdominal distention... |
OMIM:600972 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Micrognathia, Biparietal narrowing, Hip dislocation, Prominent... |
ORPHA:99776 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup... |
ORPHA:166272 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Short stature, Increased bone mineral density, Relative macrocephaly, Short humerus, Ma... |
OMIM:239000 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
Pierpont Syndrome |
|
Broad foot, Decreased body weight, Prominent subcalcaneal fat pad, Everted lower lip vermilion, S... |
OMIM:602342 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Frontal bossing, Slender long bone, Abnormal rib morphology, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Kyphosis, Short long bone, Squared-off platyspondyly, Flat acetabular roof, S... |
OMIM:271530 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Bifid tongue, Hypoplastic facial bones, Midface retrusion, Unicoron... |
OMIM:616300 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Abnormality of the knee, Genu valgum, Coxa vara, Short stature, Abnormality of the ep... |
ORPHA:166002 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Depressed nasal bridge, Decre... |
ORPHA:1512 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Hepatosplenomegaly, Limb undergrowth, Delayed epi... |
ORPHA:93352 |
Isotretinoin Syndrome |
|
Micrognathia, Biparietal narrowing, Spina bifida occulta, Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
Distal Trisomy 5Q |
|
Absent thumb, Long philtrum, Short stature, Aplasia/Hypoplasia of the gallbladder, Hypoplasia of ... |
ORPHA:96097 |
Myotonia Congenita, Autosomal Dominant |
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Myotonia, Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Bulging of the costochondral junction, Wide nasal bridge, Delayed eruption of t... |
OMIM:277440 |
Epiphyseal Dysplasia, Multiple, 1 |
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Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... |
OMIM:132400 |
Ghosal Hematodiaphyseal Dysplasia |
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Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Kyphomelic Dysplasia |
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Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Lateral cla... |
ORPHA:1801 |
Ivic Syndrome |
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Absent thumb, Short femur, Thrombocytopenia, Short 1st metacarpal, Carpal synostosis, Carpal bone... |
OMIM:147750 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
Ulnar Hypoplasia |
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Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Hall-Riggs Syndrome |
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Prominent nose, Wide nasal bridge, Delayed eruption of teeth, Short stature, Thick vermilion bord... |
ORPHA:2107 |
Osteolysis Syndrome, Recessive |
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Knee flexion contracture, Short stature, Abnormal foot morphology, Elbow flexion contracture, Met... |
OMIM:259610 |
Intellectual Disability And Myopathy Syndrome |
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Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Cutis marmorata, Congenita... |
OMIM:619719 |
Premature Ovarian Failure 7 |
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Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Florid Cemento-Osseous Dysplasia |
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Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Slc35A2-Cdg |
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Short tibia, Camptodactyly of finger, Hip subluxation, Gastroesophageal reflux, Coxa valga, Abnor... |
ORPHA:356961 |
Bent Bone Dysplasia Syndrome 2 |
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Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Hepatomegaly, Talipes equinovarus, Shor... |
OMIM:620076 |
Ulnar Hypoplasia With Mental Retardation |
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Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Brachycephaly, Absent thumb, Coxa valga, Patellar dislocation, Micrognat... |
OMIM:274000 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Tube feeding, Thoracic hypoplasia, Long philtrum, Wide nasal bridge, Short long bone, Short lingu... |
OMIM:619479 |
Digital Arthropathy-Brachydactyly, Familial |
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Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Short stature, Hypogonadism, Epiphyseal stippling, Short nose, Depressed nasal bridge, Abnormalit... |
OMIM:302950 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Delayed pub... |
ORPHA:432 |
Intermediate Osteopetrosis |
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Increased susceptibility to fractures, Back pain, Dental malocclusion, Osteomyelitis, Recurrent f... |
ORPHA:210110 |
Peho Syndrome |
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Pedal edema, Tapered finger, Biparietal narrowing, Midface retrusion, Abnormal upper lip morpholo... |
ORPHA:2836 |
Trichorhinophalangeal Syndrome, Type Iii |
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Short phalanx of finger, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epi... |
OMIM:190351 |
Cleft Palate, Isolated |
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Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Larsen-Like Syndrome |
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Brachycephaly, Dental malocclusion, Wide anterior fontanel, Absent nasal bridge, Short stature, M... |
OMIM:608545 |
Dystonia, Juvenile-Onset |
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Cleft upper lip, Achalasia, Femoral retroversion, Small for gestational age, Pseudobulbar paralys... |
OMIM:607371 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... |
OMIM:611263 |
Perrault Syndrome 4 |
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Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Smith-Lemli-Opitz Syndrome |
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2-3 toe syndactyly, Bifid tongue, Wide nasal bridge, Micrognathia, Feeding difficulties in infanc... |
ORPHA:818 |
Diastrophic Dysplasia |
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Camptodactyly of finger, Micrognathia, Increased bone mineral density, Midface retrusion, Elbow d... |
ORPHA:628 |
Acrorenal-Mandibular Syndrome |
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Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... |
OMIM:200980 |
Anauxetic Dysplasia 3 |
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Hip subluxation, Plagiocephaly, Midface retrusion, Pectus excavatum, Beaking of vertebral bodies,... |
OMIM:618853 |
Multiple Epiphyseal Dysplasia Type 1 |
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Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Episodic Ataxia With Slurred Speech |
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Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Diamond-Blackfan Anemia 11 |
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Absent thumb, Anemia, Neutropenia, Forearm reduction defects, Short stature, Hypoplasia of the ra... |
OMIM:614900 |
Premature Ovarian Failure 13 |
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Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Amelogenesis Imperfecta |
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Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Oligodontia |
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Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, 2-5 finger syndactyly, Absent toe, Shor... |
OMIM:308050 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short phalanx of finger, Thick upper lip vermilion, Thoracic hypoplasia, Wide nasal bridge, Rhizo... |
OMIM:611717 |
Jeune Syndrome |
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Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Micromelia, Abnormal pel... |
ORPHA:474 |
Aminopterin Syndrome Sine Aminopterin |
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Brachycephaly, Decreased body weight, High palate, Joint contracture of the hand, Short stature, ... |
OMIM:600325 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Pedal edema, Flattened femoral head, Flat capital femoral epiphysis, Thoracic platyspondyly, Abno... |
ORPHA:166011 |
Multiple Epiphyseal Dysplasia Type 4 |
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Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal fo... |
ORPHA:93307 |
Cohen Syndrome |
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Convex nasal ridge, Tapered finger, Micrognathia, Feeding difficulties in infancy, Lumbar hyperlo... |
OMIM:216550 |
Chromosome 20Q11-Q12 Deletion Syndrome |
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Feeding difficulties in infancy, Camptodactyly, Midface retrusion, Short philtrum, Frontal bossin... |
OMIM:614257 |
Adult Neuronal Ceroid Lipofuscinosis |
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Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... |
ORPHA:79262 |
Seckel Syndrome 7 |
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Central hypothyroidism, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip d... |
OMIM:614851 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Delayed eruption of teeth, Abnormal thorax morphology, Midface retrusion, Bone marrow hypocellula... |
ORPHA:508542 |
Harrod Syndrome |
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Dental malocclusion, High palate, Kyphosis, Long nose, Abnormal pelvic girdle bone morphology, Fa... |
ORPHA:2115 |
Multiple Synostoses Syndrome |
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Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
Temtamy Preaxial Brachydactyly Syndrome |
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Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Premature Ovarian Failure 3 |
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Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
Autosomal Recessive Omodysplasia |
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Rhizomelia, Short stature, Long philtrum, Micrognathia, Abnormal morphology of the radius, Short ... |
ORPHA:93329 |
3Q29 Microduplication Syndrome |
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High palate, Wide nasal bridge, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Biparietal n... |
ORPHA:251038 |
Perrault Syndrome 3 |
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Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
Legg-Calvé-Perthes Disease |
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Cartilage destruction |
ORPHA:2380 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Cutaneous photosensitivity, Mandibular prognathia, Prominent nose, High palate, Wide nasal bridge... |
ORPHA:2180 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... |
OMIM:618870 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Wide nasal bridge, Short stature, Small for gestational age, Micrognathia, Failure to thrive, Mic... |
OMIM:612626 |
Orofaciodigital Syndrome Ix |
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Short tibia, High palate, Short stature, Toe syndactyly, Hand polydactyly, Camptodactyly, Median ... |
OMIM:258865 |
Brachydactyly, Type A1, B |
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Broad distal hallux, Short 5th metacarpal, Short stature, Clinodactyly, Cone-shaped epiphyses of ... |
OMIM:607004 |
Ruvalcaba Syndrome |
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Short phalanx of finger, Underdeveloped nasal alae, Short foot, Kyphosis, Short metacarpal, Small... |
OMIM:180870 |
Acromicric Dysplasia |
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Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Bone Dysplasia, Lethal Holmgren Type |
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Diarrhea, Hypertrophic cardiomyopathy, Hepatomegaly, Weight loss, Short ribs, Frontal bossing, Ab... |
ORPHA:1842 |
W Syndrome |
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Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Craniofrontonasal Dysplasia |
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Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Orofa... |
ORPHA:1520 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
Atkin-Flaitz Syndrome |
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Macroorchidism, Short stature, Thick vermilion border, Maxillary lateral incisor microdontia, Eve... |
ORPHA:1193 |
Summitt Syndrome |
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Camptodactyly of finger, Wide nose, Genu valgum, Short 4th metacarpal, Finger syndactyly, Depress... |
ORPHA:3210 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Horizontal ribs, Thoracic dysplasia, Early ossification of capital femor... |
OMIM:208500 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Achondrogenesis, Type Ii |
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Hypoplastic iliac wing, Horizontal ribs, Brachycephaly, Short tubular bones of the hand, Long phi... |
OMIM:200610 |
Lethal Kniest-Like Dysplasia |
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Abnormality of the ischium, Mesomelic/rhizomelic limb shortening, Hypoplastic ilia, Short ribs, W... |
ORPHA:2347 |
Premature Ovarian Failure 18 |
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Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Müllerian Aplasia And Hyperandrogenism |
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Increased serum testosterone level, Short stature, Abnormality of the ovary, Short philtrum, Brac... |
ORPHA:247768 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... |
OMIM:277320 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Short stature, Vertebral segmentation defect, Micrognathia, Biparietal nar... |
ORPHA:1915 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Hydrocele testis, Adducted thumb, Brachydactyly, Notched primary central incisor |
OMIM:620062 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Dental malocclusion, Mandibular prognathia, Prominent interdigital folds, Short first metatarsal,... |
OMIM:601957 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Prominent occiput, Short femur, Elbow d... |
OMIM:210710 |
Camptomelic Syndrome, Long-Limb Type |
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Micromelia |
OMIM:211990 |
Beaulieu-Boycott-Innes Syndrome |
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Dental malocclusion, Premature ovarian insufficiency, Micrognathia, Velopharyngeal insufficiency,... |
OMIM:613680 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermil... |
OMIM:234100 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... |
OMIM:617690 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Short stature, Prominent median palatal raphe, Thick... |
OMIM:300431 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Bulging of the costochondral junction, Delayed eruption of teeth, Sparse bone t... |
OMIM:264700 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... |
OMIM:305620 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Wide nasal bridge, Short stature, Short philtrum, Diastema, Cervical ribs, Accessory... |
OMIM:617927 |
Shox-Related Short Stature |
|
Genu valgum, High palate, Short foot, Short stature, Micrognathia, Lower limb undergrowth, Cubitu... |
ORPHA:314795 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Knee flexion contracture, 2-3 toe syndactyly, Vomiting, Hip contracture, High palate, Toe syndact... |
OMIM:616809 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Gastroesophageal reflux, Mandibular prognathia, High palate, Short stature, ... |
OMIM:610883 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal circulating calcium concentration, Memory impairment, Abnormal pyramidal sign, D... |
OMIM:213600 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Limb undergrowth, Depressed nasal ridge, Micromelia |
OMIM:601016 |
Fanconi Anemia, Complementation Group S |
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Underdeveloped nasal alae, Dental malocclusion, Anemia, Thick upper lip vermilion, Narrow palate,... |
OMIM:617883 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Feeding difficulties in infancy, Large for gestational age, Macroglo... |
ORPHA:226313 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Short stature, Bicornuate uterus, Micrognathia, Azoospermia, Cleft palate, Hypop... |
OMIM:601076 |
Baller-Gerold Syndrome |
|
Brachycephaly, Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of... |
OMIM:218600 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Short long bone, Coarse metaphyseal trabecularization, Short nose, Depressed nasal br... |
OMIM:618961 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Disproportionate short-trunk short s... |
ORPHA:99642 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Short stature, Tongue nodules, Toe syndactyly, Microg... |
OMIM:258860 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Severe short stature, Macrocephaly, Hypoplastic vertebral... |
ORPHA:2746 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Prominent nose, Narrow palate, Wide nasal bridge, Relative macrocephaly, M... |
OMIM:617169 |
Keipert Syndrome |
|
Short stature, Macrocephaly, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Tented up... |
ORPHA:2662 |
Cri-Du-Chat Syndrome |
|
Wide nasal bridge, Premature graying of hair, Feeding difficulties in infancy, Bifid uvula, Metat... |
OMIM:123450 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Short stature, Biparietal narrowing, Clinodactyly of the 5th finger, S... |
ORPHA:2031 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol... |
ORPHA:2631 |
Joubert Syndrome |
|
Foot polydactyly, Feeding difficulties in infancy, Biparietal narrowing, Hand polydactyly, Scolio... |
ORPHA:475 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... |
ORPHA:1540 |
Paramyotonia Congenita Of Von Eulenburg |
|
Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Feeding difficulties, Han... |
OMIM:168300 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Short stature, Abnormal foot morphology, Abnormal thorax morphology, Hip dislocation... |
OMIM:605274 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Supernumerary vertebrae, Cleft upper lip, Abnormal foot morphology, Micrognathia, ... |
OMIM:263750 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Midface retrusion, Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short d... |
ORPHA:2776 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short stature, Synostosis of carpal bones, Abnormal morphology ... |
ORPHA:2639 |
Clark-Baraitser syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Prominent median palatal raphe, Thick lower lip verm... |
OMIM:300602 |
Kabuki Syndrome 2 |
|
Short 5th finger, Decreased body weight, Micrognathia, Feeding difficulties in infancy, Hip dislo... |
OMIM:300867 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Short stature, Micrognathia, Diastema, Broad colu... |
ORPHA:436245 |
Sclerosteosis 1 |
|
Irregular menstruation, Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cra... |
OMIM:269500 |
Nicolaides-Baraitser Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Short palm, Thick nasal alae, Clubbing of toes, Mic... |
ORPHA:3051 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Short stature, Br... |
OMIM:600705 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Epiphyseal dysplasia, Ir... |
OMIM:609325 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Micrognathia, Feeding difficulties in infancy, Camptodactyly, Metatarsu... |
OMIM:182212 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Feingold Syndrome Type 2 |
|
Short stature, Toe syndactyly, Microcephaly, Brachydactyly, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Anxiety, Agoraphobia, Panic attack |
OMIM:159900 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Cardiac arrest, Micrognathia,... |
OMIM:212720 |
Turnpenny-Fry Syndrome |
|
Brachycephaly, Decreased body weight, Tapered finger, Plagiocephaly, Microdontia, Prominent nasal... |
OMIM:618371 |
Joubert Syndrome With Ocular Defect |
|
Foot polydactyly, Biparietal narrowing, Hand polydactyly, Abnormal vertebral morphology, Scoliosi... |
ORPHA:220493 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Broad foot, Abnormal carpal morphology, Co... |
ORPHA:93351 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Microcephaly, Abnormal nasal base norpholog... |
ORPHA:1919 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, F... |
ORPHA:1278 |
Pseudoachondroplasia |
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Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Beaking of vertebral bo... |
OMIM:177170 |
Langer Mesomelic Dysplasia |
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Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog... |
ORPHA:2632 |
Spondylometaphyseal Dysplasia, A4 Type |
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Short palm, Micromelia |
ORPHA:168555 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Short stature, Premature ovarian insufficiency, Ulnar deviation of finge... |
ORPHA:2928 |
Omodysplasia 1 |
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Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br... |
OMIM:258315 |
Trochlea Of The Humerus, Aplasia Of |
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Cleft palate, Short humerus |
OMIM:191000 |
Carpenter Syndrome 1 |
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Brachycephaly, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared... |
OMIM:201000 |
Ruvalcaba Syndrome |
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Convex nasal ridge, Synostosis of carpal bones, Short nose, Delayed puberty, Narrow mouth, Proxim... |
ORPHA:3121 |
Mesomelia-Synostoses Syndrome |
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Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ... |
ORPHA:2496 |
Non-Syndromic Bicoronal Craniosynostosis |
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Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly |
ORPHA:35099 |
Juberg-Hayward Syndrome |
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Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... |
ORPHA:2319 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... |
OMIM:250460 |
Brachydactyly Type C |
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Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Short stature, Complete dup... |
ORPHA:93384 |
Opsismodysplasia |
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Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short palm, Hypoplas... |
OMIM:258480 |
Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Abnormality of the philtrum, Short foot, Kyphosis, Hypogonadism, Toe syn... |
ORPHA:3409 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Osteogenesis Imperfecta |
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Brachycephaly, Convex nasal ridge, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, ... |
ORPHA:666 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
Pelvis-Shoulder Dysplasia |
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Hypoplastic acetabulae, Hypoplastic ilia, Short stature, Clinodactyly of the 5th finger, Spina bi... |
OMIM:169550 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Midfac... |
OMIM:601390 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Coxa valga, Micrognathia, Increased bone mineral density, Short neck, Flattened epiphysis, Ovoid ... |
ORPHA:163649 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, A... |
OMIM:602196 |
Metatropic Dysplasia |
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Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
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