Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... |
OMIM:617405 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Micrognathia, Narrow m... |
OMIM:227270 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... |
OMIM:612447 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... |
ORPHA:166016 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Anteverted nares, Dea... |
OMIM:618961 |
Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-... |
OMIM:614524 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... |
ORPHA:1972 |
Achondrogenesis, Type Ia |
|
Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphology, Severe li... |
OMIM:200600 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... |
OMIM:151210 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... |
OMIM:187601 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Depressed nasal bridge, Micromelia, Thoraci... |
OMIM:617895 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification... |
OMIM:269250 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Sh... |
OMIM:215045 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... |
ORPHA:85166 |
Mietens-Weber Syndrome |
|
Elbow flexion contracture, Narrow nose, Dislocated radial head, Forearm undergrowth, Absent proxi... |
OMIM:249600 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... |
ORPHA:2831 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... |
OMIM:228520 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... |
OMIM:186500 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Micro... |
OMIM:613320 |
Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Recurrent respiratory infections, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... |
ORPHA:440354 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Kyphomelic Dysplasia |
|
Narrow chest, Micromelia, Short thorax, Micrognathia, Undulate ribs, Bowing of the long bones, Mi... |
ORPHA:1801 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Limited knee flexion/extension, Short tibia, Structural foot d... |
ORPHA:93323 |
Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... |
OMIM:108720 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Narrow ... |
OMIM:201170 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Abnormal thorax morphology, Ulnar deviated club h... |
OMIM:164900 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
Bone Dysplasia, Lethal Holmgren Type |
|
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnor... |
ORPHA:1842 |
Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Dea... |
OMIM:241800 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... |
OMIM:249710 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic ilia, Pectus carinatum, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pub... |
OMIM:613330 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... |
OMIM:613091 |
Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... |
OMIM:271700 |
Van Bogaert-Hozay Syndrome |
|
Depressed nasal bridge, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal uln... |
OMIM:277150 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Hypoplasia of t... |
ORPHA:2249 |
Fibrochondrogenesis |
|
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... |
ORPHA:2021 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... |
OMIM:600002 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum |
OMIM:618155 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... |
OMIM:187600 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... |
ORPHA:1988 |
Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short ... |
ORPHA:93328 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed ... |
ORPHA:93296 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... |
OMIM:311895 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Short humerus, Hyp... |
ORPHA:75508 |
Atelosteogenesis Type Ii |
|
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Be... |
ORPHA:56304 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Short humerus, Thoracic scoliosis, Talipes equinov... |
OMIM:616716 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Narrow chest, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal... |
OMIM:611263 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Short foot, Cleft palate |
OMIM:300261 |
Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... |
ORPHA:1856 |
Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Pulmonary hypoplasia, Radial bowing, Flared metaphysis, Thora... |
OMIM:100800 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Micrognathia, Dyspnea |
ORPHA:141152 |
Seckel Syndrome 4 |
|
Steep acetabular roof, Underdeveloped nasal alae, 11 pairs of ribs |
OMIM:613676 |
Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement |
OMIM:276821 |
Orofaciodigital Syndrome Iii |
|
Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ... |
OMIM:258850 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot |
ORPHA:1122 |
Kyphomelic Dysplasia |
|
Depressed nasal bridge, Radial bowing, Flared metaphysis, Micromelia, Thoracic hypoplasia, Dumbbe... |
OMIM:211350 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Narrow chest, Micromelia, Short ribs, Stillbirth |
OMIM:600972 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... |
OMIM:602471 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,... |
OMIM:206920 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Pierre Robin Syndrome And Oligodactyly |
|
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... |
OMIM:258860 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... |
ORPHA:174 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... |
ORPHA:1277 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2256 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Narrow chest, Microme... |
OMIM:614091 |
Fetal Akinesia Deformation Sequence 4 |
|
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly,... |
OMIM:618393 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... |
ORPHA:958 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Micrognathia, Absent frontal sinuses, Diaphyseal undertubu... |
OMIM:224300 |
Mietens Syndrome |
|
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... |
ORPHA:2557 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions... |
OMIM:250420 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
Arms, Malformation Of |
|
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna |
OMIM:107900 |
Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... |
OMIM:256050 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... |
OMIM:271665 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High palate, Mesomeli... |
OMIM:268305 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose |
OMIM:300577 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Hama... |
OMIM:616300 |
Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, Broad long bone... |
ORPHA:2347 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Resp... |
ORPHA:166272 |
Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti... |
ORPHA:294975 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... |
ORPHA:93333 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph... |
OMIM:607326 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hyp... |
OMIM:620076 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizom... |
OMIM:300863 |
3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Short t... |
ORPHA:2616 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Long philtrum, Rhizomelic arm shortening, Micrognathia,... |
OMIM:164745 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... |
OMIM:619751 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Short ribs, Fibular hypoplasia,... |
ORPHA:3144 |
Lethal Recessive Chondrodysplasia |
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Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under... |
ORPHA:1423 |
Greenberg Dysplasia |
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Fractured rib, Postaxial foot polydactyly, Micrognathia, Barrel-shaped chest, Neonatal death, Dia... |
OMIM:215140 |
Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Wide nasal bridge, Pulmonary hypoplasia, Thoracic hypoplasia, Flared metaphysis, Decreased fibula... |
OMIM:616897 |
Cenani-Lenz Syndrome |
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Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Elbow dislocation, Ol... |
ORPHA:3258 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Tarp Syndrome |
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Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Single transverse palmar crease,... |
OMIM:311900 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
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Clinodactyly, Thick nasal alae, Micrognathia, Hypoplasia of the ulna, Wide nose |
ORPHA:357175 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral clef... |
OMIM:601357 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Wide nasal bridge, Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Micromelia, Broad long b... |
ORPHA:1865 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... |
OMIM:184255 |
Heart-Hand Syndrome Type 2 |
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Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Depressed nasal bridge, Pulmonary hypoplasia, Narrow chest, Lateral clavicle hook, Preaxial polyd... |
OMIM:615503 |
Three M Syndrome 1 |
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Short 5th finger, Depressed nasal bridge, Slender long bone, Anteverted nares, Hypoplastic pelvis... |
OMIM:273750 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... |
OMIM:602557 |
Otoonychoperoneal Syndrome |
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Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... |
OMIM:259780 |
Abdominal Obesity-Metabolic Syndrome 1 |
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Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
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Abdominal obesity |
OMIM:605572 |
Seckel Syndrome 1 |
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Ivory epiphyses, Hip dislocation, Dental malocclusion, Sandal gap, Selective tooth agenesis, Hypo... |
OMIM:210600 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Prominent ... |
ORPHA:46 |
Thrombocytopenia-Absent Radius Syndrome |
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Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, ... |
ORPHA:3320 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
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Clinodactyly, Thick nasal alae, Micrognathia, Hypoplasia of the ulna, Wide nose |
OMIM:615162 |
Blomstrand Lethal Chondrodysplasia |
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Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morphology, Broad clavicle... |
ORPHA:50945 |
Microcephaly-Micromelia Syndrome |
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Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu... |
OMIM:251230 |
Congenital Disorder Of Glycosylation, Type Ig |
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Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sandal gap, Short ... |
OMIM:607143 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
Orofaciodigital Syndrome Type 3 |
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Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Thora... |
ORPHA:2752 |
Acrofacial Dysostosis, RodrÃguez Type |
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Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... |
OMIM:617866 |
Hypophosphatasia, Infantile |
|
Metaphyseal cupping, Rachitic rosary, Micromelia, Apnea, Death in infancy, Short ribs, Stillbirth... |
OMIM:241500 |
Ritscher-Schinzel Syndrome 3 |
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Short 1st metacarpal, Short first metatarsal, Anteverted nares, Epiphyseal stippling, Micrognathi... |
OMIM:619135 |
Ulbright-Hodes Syndrome |
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Thin ribs, Depressed nasal bridge, Pulmonary hypoplasia, Abnormal forearm bone morphology, Respir... |
ORPHA:3404 |
Diaphanospondylodysostosis |
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Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax |
ORPHA:66637 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... |
OMIM:166250 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Hor... |
OMIM:200610 |
Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Orofaciodigital Syndrome X |
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Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... |
OMIM:165590 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
Odontochondrodysplasia 1 |
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Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... |
OMIM:615630 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Short femoral neck, Carpal bone hypoplasia, Hypoplasia of the ulna, Dislocated radial ... |
OMIM:618395 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth |
OMIM:218650 |
Cleidocranial Dysplasia |
|
Depressed nasal bridge, Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal ep... |
ORPHA:1452 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac w... |
OMIM:208500 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... |
ORPHA:2639 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... |
OMIM:250220 |
Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Depressed ... |
OMIM:617102 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Death in early adulthood, Micromelia |
ORPHA:79107 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Joint contracture of the hand, Narrow chest, Micromelia, Broad long bones, Micrognathia, Short ri... |
OMIM:224400 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Short... |
ORPHA:217340 |
Grant Syndrome |
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Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Open... |
ORPHA:2097 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... |
ORPHA:2563 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... |
OMIM:614078 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... |
OMIM:212780 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Brachydactyly, Short long bone, Sho... |
ORPHA:221054 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance |
ORPHA:436141 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Micromelia, Short palm, Coxa vara |
ORPHA:168555 |
Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Micrognathia, Femoral bowing, T... |
ORPHA:140 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Pulmonary hypoplasia, Narrow chest, Short toe, Atelectasis, Short finger, S... |
OMIM:269860 |
Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence |
OMIM:261800 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Respiratory distress, Long palm, Arachnodactyly, Missing ribs... |
ORPHA:2759 |
Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
Radial Ray Hypoplasia With Choanal Atresia |
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Choanal atresia, Depressed nasal bridge, Short thumb, Distally placed thumb, Choanal stenosis, Hy... |
OMIM:179270 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Short nose, Anteverted nares, ... |
ORPHA:93329 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... |
ORPHA:3104 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
Prader-Willi syndrome (Type 1) |
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Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Multiple Synostoses Syndrome 3 |
|
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... |
OMIM:612961 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... |
OMIM:308050 |
Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
Orofaciodigital Syndrome Ix |
|
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... |
OMIM:258865 |
Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... |
OMIM:618150 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... |
OMIM:609052 |
Prieto Syndrome |
|
Radial deviation of finger, Clinodactyly, 11 pairs of ribs, Prominent nose, Talipes equinovarus, ... |
OMIM:309610 |
Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... |
ORPHA:63446 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Mic... |
OMIM:617925 |
Acromicric Dysplasia |
|
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... |
ORPHA:969 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Respiratory distress, Elbow flexion contracture, Hip... |
ORPHA:1145 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Rhizomelia, St... |
OMIM:222765 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Wide nasal bridge, Short thorax, Anteverted nares, Missing ribs, Abnormal rib morphology, Spina b... |
ORPHA:1797 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Pyloric stenosis, Rhizomelia, Dentinogenesis imperfecta, Narrow chest, Micromelia, Tho... |
OMIM:613848 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Proxi... |
OMIM:609324 |
Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Parietal foramina, Turricephaly, Wormian bones, 2-5 finger cutaneous... |
OMIM:601224 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... |
OMIM:157980 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Wide nasal bridge, Fractured rib, Narrow chest, Depressed nasal bridge, Metaphyseal sp... |
OMIM:618188 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Respiratory distress, Anteverted nares, Micrognathia, Mandibular aplasia, ... |
ORPHA:1832 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Micrognathia, Turricephaly, Brachycephaly, Brachydactyly, Split ha... |
ORPHA:2145 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Frontal bo... |
ORPHA:163649 |
Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... |
OMIM:260660 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... |
ORPHA:2631 |
Tarp Syndrome |
|
Wide nasal bridge, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Anteverted nar... |
ORPHA:2886 |
Atelosteogenesis Type I |
|
Rhizomelia, Narrow chest, Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Limb undergrowt... |
ORPHA:1190 |
Boomerang Dysplasia |
|
Neonatal death, Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Immunodeficiency 43 |
|
Radial bowing, Hypoplasia of the ulna, Lung abscess, Organizing pneumonia, Recurrent respiratory ... |
OMIM:241600 |
Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Cleft soft palate, Turricephaly, Wor... |
OMIM:604757 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, Tachypnea, Long clavicles, Cone-shaped ... |
ORPHA:397715 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... |
OMIM:602418 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... |
ORPHA:93351 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Bulbous nose, Clinodactyly of the 5th toe, Short sternum, Ulnar deviati... |
OMIM:620113 |
Achondrogenesis Type 1B |
|
Narrow chest, Micromelia, Short thorax, Anteverted nares, Micrognathia, Talipes equinovarus, Apla... |
ORPHA:93298 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... |
OMIM:610921 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Short nose, Anteverted nares, Micrognathia, Multiple rib fractures, Apl... |
ORPHA:93299 |
W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Radial bowing, Clinodactyly, Elbow dislocation, Cubitus ... |
ORPHA:2804 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula, Elbow flexion ... |
OMIM:200980 |
Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
Kinsship Syndrome |
|
Downturned corners of mouth, Cervical ribs, Thick lower lip vermilion, Ankyloglossia, Widely spac... |
OMIM:619297 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Choanal atresia, Metaphyseal cupping, Micrognathia, Hip contracture, Short ribs, Bowing of the lo... |
OMIM:156400 |
Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... |
OMIM:614900 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Hypoplastic cervical ... |
ORPHA:2635 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closure, Abnormality of the w... |
ORPHA:2511 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
Muenke Syndrome |
|
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... |
OMIM:602849 |
Perching Syndrome |
|
Respiratory distress, Depressed nasal bridge, Camptodactyly |
OMIM:617055 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... |
ORPHA:2839 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Thoracic hypoplasia, S... |
OMIM:608728 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose |
OMIM:155050 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Short sternum, Short nose, Wide anterior fontanel |
OMIM:222448 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... |
OMIM:277170 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs |
ORPHA:156728 |
Duane-Radial Ray Syndrome |
|
Choanal atresia, Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder di... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... |
ORPHA:163966 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... |
ORPHA:2751 |
Clark-Baraitser Syndrome |
|
Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Th... |
OMIM:617752 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Flared metaphysis, Cone-shape... |
OMIM:309350 |
Marshall-Smith Syndrome |
|
Hypoplasia of the odontoid process, Aspiration pneumonia, Death in childhood, Bullet-shaped middl... |
OMIM:602535 |
Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Oligodontia, Arachnodacty... |
OMIM:600325 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short 4th toe, Anteverted nares, Short humerus, Brachydactyly, Short lower ... |
ORPHA:420794 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipes equinovarus, Anal atresia, Hi... |
OMIM:300373 |
Chitayat Syndrome |
|
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Hallux valgus, B... |
OMIM:617180 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... |
OMIM:119800 |
Cornelia De Lange Syndrome 2 |
|
Small hand, Clinodactyly, Downturned corners of mouth, Micrognathia, Limited elbow movement, Thin... |
OMIM:300590 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Chylothorax, Micromelia, Respiratory distress, Micrognathia, Pleural effu... |
ORPHA:3015 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... |
ORPHA:70589 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog... |
ORPHA:2519 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... |
ORPHA:2370 |
Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t... |
ORPHA:246 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the wrist, Wide nose, Radioulnar synostosis, Abnormal... |
ORPHA:2319 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Meier-Gorlin Syndrome 3 |
|
Recurrent pneumonia, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasia, Sho... |
OMIM:613803 |
2Q32Q33 Microdeletion Syndrome |
|
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligod... |
ORPHA:251019 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Wide nasal bridge, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent ... |
ORPHA:1352 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Depressed nasal bridge, Increased density of long bones, Short 1s... |
OMIM:269150 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... |
ORPHA:95699 |
Ruvalcaba Syndrome |
|
Small hand, Narrow chest, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow exten... |
OMIM:180870 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Micrognathia, Phalangeal dislo... |
OMIM:264180 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate |
ORPHA:2016 |
Cornelia De Lange Syndrome 1 |
|
Finger aplasia, Pneumonia, Choanal atresia, Depressed nasal bridge, Micromelia, Hypoplastic radia... |
OMIM:122470 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Neonatal death, Hand polydactyly, Absent radius, Proximal placement of thumb, Pulm... |
OMIM:314390 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly of the 5th finger, High palate,... |
ORPHA:376 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous finger syndactyly, Na... |
ORPHA:896 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... |
OMIM:271650 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea |
OMIM:267450 |
Craniofrontonasal Dysplasia |
|
Abnormality of the dentition, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of fing... |
ORPHA:1520 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion |
OMIM:607371 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... |
ORPHA:2911 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped femur, Flare... |
OMIM:156550 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... |
OMIM:619859 |
Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... |
OMIM:617719 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion |
OMIM:309545 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, Death in chi... |
OMIM:616809 |
Phocomelia, Schinzel Type |
|
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum,... |
ORPHA:2879 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Atelectasis, Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Atelosteogenesis Type Iii |
|
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Thoracic hypoplasia, Knee di... |
ORPHA:56305 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation |
OMIM:620200 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
Steinfeld Syndrome |
|
Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ... |
OMIM:184705 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial polysyndactyly ... |
OMIM:263520 |
Cranioectodermal Dysplasia 1 |
|
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa... |
OMIM:218330 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate |
OMIM:223200 |
Non-Distal Duplication 10Q |
|
Micrognathia, Brachycephaly, Everted lower lip vermilion, High palate, Frontal bossing |
ORPHA:1695 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Deviation of finger, Short nose |
ORPHA:1450 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Pulmonary edema,... |
ORPHA:70587 |
Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... |
ORPHA:971 |
Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... |
OMIM:142900 |
Acromesomelic Dysplasia 1 |
|
Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ... |
OMIM:602875 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly |
ORPHA:178377 |
Arthrogryposis, Distal, Type 1C |
|
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Narro... |
OMIM:619110 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Scarf Syndrome |
|
Wide nasal base, Short sternum, Pectus carinatum |
ORPHA:3134 |
Pyknoachondrogenesis |
|
Depressed nasal ridge, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic... |
ORPHA:3003 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fin... |
ORPHA:52 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Bowing of the long bones, Sprengel anomaly, Brachydactyly, Acromesomelia |
ORPHA:40 |
Distal Duplication 5Q |
|
Absent thumb, Micrognathia, Prominent nasal bridge, Hypoplasia of the ulna, Hypoplasia of the rad... |
ORPHA:96097 |
Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... |
ORPHA:3312 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic rhinitis... |
ORPHA:922 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly |
OMIM:615993 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Abnormal foot morp... |
ORPHA:94068 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Clinodactyly, Long philtrum, Micrognathia, Unilambdoid synostosis, Brachycephaly, ... |
OMIM:618577 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Micromelia, Nonopposable triphalangeal thumb, Hypoplasia of the radius |
ORPHA:2252 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Mi... |
OMIM:252500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly... |
OMIM:620073 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Scarf Syndrome |
|
Wide nasal bridge, Pectus carinatum, Prominent nasal bridge, Barrel-shaped chest, Short sternum |
OMIM:312830 |
Larsen-Like Syndrome |
|
Joint dislocation, Dental malocclusion, Frontal bossing, Radial deviation of the 4th finger, Tali... |
OMIM:608545 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Prominent median palatal ... |
OMIM:602342 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor... |
ORPHA:1837 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Thin upper lip vermilion,... |
ORPHA:487825 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, High palate, Narrow mouth |
ORPHA:2528 |
Cornelia De Lange Syndrome 5 |
|
Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Micr... |
OMIM:300882 |
Immunodeficiency 95 |
|
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... |
OMIM:619773 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... |
OMIM:134780 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Diastrophic Dysplasia |
|
Depressed nasal bridge, Ulnar deviation of finger, Abnormal epiphysis morphology, Hypoplastic cer... |
ORPHA:628 |
Achondroplasia |
|
Thoracolumbar kyphosis, Depressed nasal bridge, Hip joint hypermobility, Rhizomelia, Thoracic hyp... |
ORPHA:15 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... |
OMIM:268310 |
Antley-Bixler Syndrome |
|
Long philtrum, Delayed cranial suture closure, Camptodactyly of finger, Femoral bowing, Narrow mo... |
ORPHA:83 |
Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
Radial Hemimelia |
|
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... |
ORPHA:93321 |
Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Apnea, Neonatal death, C... |
OMIM:610015 |
Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... |
ORPHA:1784 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... |
OMIM:181450 |
Microlissencephaly-Micromelia Syndrome |
|
Micromelia, Respiratory distress, 11 pairs of ribs, Bilateral single transverse palmar creases, A... |
ORPHA:50810 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Omodysplasia 1 |
|
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited elbow flexion, Microg... |
OMIM:258315 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Choanal atresia, Short thumb, Micrognathia, Radioulnar synostosis, Hy... |
OMIM:263750 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... |
OMIM:601559 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
Coffin-Siris Syndrome 11 |
|
Bifid uvula, Small hand, Downturned corners of mouth, Frontal bossing, Cleft soft palate, Esophag... |
OMIM:618779 |
Craniosynostosis 6 |
|
Plagiocephaly, Right unilambdoid synostosis, Parietal foramina, Delayed cranial suture closure, B... |
OMIM:616602 |
Mesomelia-Synostoses Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Micrognat... |
ORPHA:2496 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent lower respira... |
OMIM:616726 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo... |
ORPHA:90652 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Thoracic hypoplasia, Anteverted nares, Upper limb undergrowth |
OMIM:613124 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Muenke Syndrome |
|
High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synos... |
ORPHA:53271 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Short ribs, Carpal bone hypoplasia... |
OMIM:252600 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Small hand, Plagiocephaly, Downturned corners of mouth, Prominent occiput, Dolichocephaly, Brachy... |
OMIM:618672 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia, Neonatal death |
OMIM:273680 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... |
ORPHA:93316 |
Diaphanospondylodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Thoracic hypoplasia, Respiratory distress, Microgn... |
OMIM:608022 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Small then... |
OMIM:613390 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sa... |
ORPHA:1860 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, An... |
OMIM:617877 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Brachycephaly, Turricephaly |
ORPHA:1532 |
Achondrogenesis |
|
Narrow chest, Micromelia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Short ... |
ORPHA:932 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Persistent open anterior fontanelle, Long philtrum, Narrow mouth, Arachnodactyly... |
OMIM:615539 |
Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... |
ORPHA:93258 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... |
ORPHA:2780 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Weiss-Kruszka Syndrome |
|
Single transverse palmar crease, Prominent nasal tip, Clinodactyly of the 5th finger, Proximal pl... |
ORPHA:502430 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Depressed nasal bridge, Narrow chest, Rhizomelia, 11 pairs of ribs |
OMIM:617661 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology... |
ORPHA:1387 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Calcification of cartilage, Exertional d... |
ORPHA:3348 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Metaphyseal dapp... |
OMIM:184250 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Wide nasal bridge, Enlarged naris, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Ant... |
OMIM:616266 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Recurrent respiratory ... |
OMIM:618356 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl... |
ORPHA:3186 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... |
OMIM:251450 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split foot, Split hand, Cleft palate |
OMIM:183700 |
Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Coxa valga, Contracture... |
OMIM:216800 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... |
OMIM:615761 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... |
ORPHA:60032 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... |
OMIM:618363 |
Codas Syndrome |
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Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Depressed nasal... |
OMIM:600373 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Large for gestational age, Truncal obesity |
ORPHA:293964 |
Moebius Syndrome |
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Hand clenching, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Clinodactyly, Rad... |
OMIM:157900 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
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Nonopposable triphalangeal thumb, Hypoplasia of the radius |
OMIM:179250 |
Cardioacrofacial Dysplasia 2 |
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Conical tooth, Postaxial foot polydactyly, Narrow chest, Genu valgum, Tented upper lip vermilion,... |
OMIM:619143 |
Congenital Disorder Of Glycosylation, Type Iy |
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Respiratory distress, Micrognathia, Clinodactyly |
OMIM:300934 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
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Abnormal epiphysis morphology, Micromelia, Short thorax |
ORPHA:93283 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Depressed nasal bridge, Anteverted nares, Micrognathia, Short sternum, Short nose, Wide nose |
OMIM:257300 |
Opsismodysplasia |
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Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Hypoplastic ver... |
ORPHA:2746 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
14Q11.2 Microdeletion Syndrome |
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Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose |
ORPHA:261120 |
Ruvalcaba Syndrome |
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Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr... |
ORPHA:3121 |
Turnpenny-Fry Syndrome |
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Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Thoracic kyphoscoliosis, High palate, Pe... |
OMIM:618371 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Small hand, Brachydactyly, Recurrent respiratory infections, Con... |
OMIM:618618 |
Terminal Osseous Dysplasia |
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Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc... |
OMIM:300244 |
Maxillonasal Dysplasia |
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Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A... |
ORPHA:1248 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Wide nasal bridge, Depressed nasal bridge, Narrow chest, Thoracic hypoplasia, Trident pelvis, Sho... |
OMIM:619479 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal rib... |
OMIM:617088 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age |
OMIM:256450 |
Robinow Syndrome, Autosomal Dominant 2 |
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Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion... |
OMIM:616331 |
Pleural Mesothelioma |
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Respiratory distress, Abnormal pleura morphology, Abnormal thorax morphology, Pleural effusion, D... |
ORPHA:50251 |
Osteogenesis Imperfecta, Type Ii |
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Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... |
OMIM:166210 |
Camptomelic Syndrome, Long-Limb Type |
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Bowing of the long bones, Micromelia |
OMIM:211990 |
Acromesomelic Dysplasia 4 |
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Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... |
OMIM:619636 |
Orofaciodigital Syndrome Type 5 |
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High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... |
ORPHA:2919 |
Verloove Vanhorick-Brubakk Syndrome |
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Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... |
ORPHA:3429 |
Robinow Syndrome, Autosomal Recessive 2 |
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Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br... |
OMIM:618529 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Depressed nasal bridge, Anteverted nares, Hypoplasia of the ulna, Pectus excavatum, Short nose |
OMIM:615398 |
8Q12 Microduplication Syndrome |
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Long philtrum, Narrow mouth, Brachycephaly, Everted lower lip vermilion, Short foot |
ORPHA:228399 |
Otopalatodigital Syndrome, Type I |
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Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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