| Brachydactyly, Type A1, D |
|
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... |
OMIM:616849 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... |
OMIM:182255 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Eiken Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... |
ORPHA:79106 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... |
ORPHA:85169 |
| Acrocapitofemoral Dysplasia |
|
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... |
OMIM:607778 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respiratory insuffi... |
OMIM:156530 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... |
ORPHA:93351 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... |
OMIM:615072 |
| Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... |
OMIM:601346 |
| Ulnar Hemimelia |
|
Radial club hand, Short forearm, Elbow pain, Limited shoulder movement, Duplication of phalanx of... |
ORPHA:93320 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... |
OMIM:200700 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... |
ORPHA:93396 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal |
OMIM:313350 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... |
OMIM:601376 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,... |
OMIM:601560 |
| Craniosynostosis, Adelaide Type |
|
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... |
OMIM:600593 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... |
ORPHA:93406 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... |
OMIM:606835 |
| Chondrodysplasia, Blomstrand Type |
|
Accelerated skeletal maturation, Squared iliac bones, Advanced tarsal ossification, Stillbirth, G... |
OMIM:215045 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... |
OMIM:112500 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... |
OMIM:112700 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... |
ORPHA:2741 |
| Fibrochondrogenesis 1 |
|
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, Depressed nasal ... |
OMIM:228520 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... |
OMIM:607004 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal... |
OMIM:615710 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... |
ORPHA:2639 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... |
OMIM:269250 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... |
ORPHA:93397 |
| Achondrogenesis, Type Ia |
|
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Short nos... |
OMIM:200600 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... |
ORPHA:1836 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Short nose, Narrow chest, Anteverted nares, Limb undergrowth, Short ribs, Co... |
OMIM:618961 |
| Leri-Weill Dyschondrosteosis |
|
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... |
OMIM:127300 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carpal bones, Hyp... |
ORPHA:90650 |
| Fibular Hemimelia |
|
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... |
ORPHA:93323 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Accelerated skeletal maturation, Craniosynostosis, Short phalanx of finger, ... |
OMIM:250215 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... |
OMIM:112600 |
| Duodenal Atresia |
|
Duodenal atresia, Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger |
OMIM:219070 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... |
OMIM:118651 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis mor... |
ORPHA:1842 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Narrow chest, Elbow dislocation, Multinucleated giant chondrocytes in epiphysea... |
OMIM:108720 |
| Thoracomelic Dysplasia |
|
Genu valgum, Disproportionate short-limb short stature, Narrow chest, Elbow dislocation, Joint hy... |
ORPHA:1803 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... |
OMIM:271650 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... |
ORPHA:240 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of tibia morphology, Bulbous nose, Abnormality of the metacarpal bones, Joint stiffne... |
ORPHA:2496 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Otopalatodigital Syndrome, Type Ii |
|
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... |
OMIM:304120 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Elbo... |
ORPHA:2634 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Disproportionate short-limb short s... |
OMIM:600121 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elb... |
OMIM:171480 |
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Disproportionate short stature, Anteverted nares, Stippled calcification proximal humeral epiphys... |
OMIM:222765 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... |
OMIM:102510 |
| Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Pes pla... |
OMIM:223800 |
| Three M Syndrome 1 |
|
Joint hypermobility, Pes planus, Mandibular prognathia, Postnatal growth retardation, Spina bifid... |
OMIM:273750 |
| Achondrogenesis Type 2 |
|
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... |
ORPHA:93296 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... |
OMIM:201250 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Anteverted nares, Pectus carinatum, Short finger, Hyperextensibility of the fing... |
OMIM:313420 |
| Femur-Fibula-Ulna Complex |
|
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... |
ORPHA:2019 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... |
OMIM:114290 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomelia, Flattene... |
ORPHA:166016 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... |
OMIM:132400 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Wide anterior fontanel, Wide ... |
OMIM:201170 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Growth ... |
OMIM:616716 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Brachydactyly Type A1 |
|
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... |
ORPHA:93388 |
| Thanatophoric Dysplasia, Type Ii |
|
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Shor... |
OMIM:187601 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Cleidocranial Dysplasia |
|
Wormian bones, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Narrow chest, Mandi... |
ORPHA:1452 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... |
ORPHA:1856 |
| Thanatophoric Dysplasia, Type I |
|
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Shor... |
OMIM:187600 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Short thorax, Disproportionate short stature, Narrow... |
ORPHA:1801 |
| Omodysplasia 2 |
|
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... |
OMIM:164745 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... |
ORPHA:1505 |
| Achondrogenesis, Type Ib |
|
Stillbirth, Narrow chest, Hypoplastic ilia, Short ribs, Respiratory insufficiency, Absent or mini... |
OMIM:600972 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... |
ORPHA:1972 |
| Brachydactyly Type C |
|
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... |
ORPHA:93384 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... |
OMIM:186500 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Disproportionate short stature, Joint laxity, Metaphyseal irregularity, Cen... |
OMIM:602557 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short thorax, Disproportionate short-limb short stature, Narrow chest, Hypoplastic pelvis, Hypopl... |
ORPHA:85166 |
| Tarsal-Carpal Coalition Syndrome |
|
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... |
OMIM:186570 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... |
OMIM:249600 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology |
OMIM:142623 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Narrow chest, Postnatal growth retardation, Short distal phalanx of finger, Ul... |
OMIM:210720 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Scapulohumeral synostosis, Rhizomelia, Hypoplastic scapulae, Flexion cont... |
OMIM:602471 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... |
ORPHA:3246 |
| Stuve-Wiedemann Syndrome |
|
Abnormal dental enamel morphology, Short phalanx of finger, Respiratory insufficiency, Pathologic... |
OMIM:601559 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... |
OMIM:613330 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon |
OMIM:235760 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... |
ORPHA:750 |
| Acrodysostosis |
|
Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Mandibular prognathia, A... |
ORPHA:950 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Narrow chest, Respiratory insufficiency, Small abnormally for... |
ORPHA:140 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow chest, Anteverted nares, Wid... |
ORPHA:2021 |
| Eiken Syndrome |
|
Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Delayed epiphysea... |
OMIM:600002 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... |
OMIM:227270 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... |
OMIM:174500 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Short dista... |
OMIM:311300 |
| Microphthalmia With Limb Anomalies |
|
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Short nose, Growt... |
OMIM:206920 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Sandal gap, ... |
OMIM:215140 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... |
ORPHA:1275 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Severe ... |
OMIM:151210 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... |
OMIM:164900 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Rhizomelia, Mandibular pr... |
ORPHA:2831 |
| X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
| Smith-Mccort Dysplasia 1 |
|
Genu valgum, Multicentric femoral head ossification, Prominent sternum, Short phalanx of finger, ... |
OMIM:607326 |
| Multiple Osteochondromas |
|
Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the metaphysis, Ost... |
ORPHA:321 |
| Syndactyly, Type V |
|
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... |
OMIM:186300 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Short statu... |
ORPHA:3268 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... |
ORPHA:2249 |
| Boomerang Dysplasia |
|
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Nar... |
ORPHA:1263 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification, Flared il... |
OMIM:271665 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Disproportionate short stature, Bell-shaped thorax, Short long bone, Coxa v... |
OMIM:611702 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... |
OMIM:249700 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, M... |
OMIM:616897 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Abnormal scapula morph... |
ORPHA:2141 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Squared iliac bones, Wormian bones, Short nose, Narrow chest, Metaphyseal cupping, Bell-shaped th... |
OMIM:613320 |
| Split-Hand/Foot Malformation 4 |
|
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... |
OMIM:605289 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... |
OMIM:185750 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Proportionate short stature, Pes planus, Postnatal growth retardation, Sandal ... |
OMIM:210600 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Duodenal stenosis, Congenital diaphragmatic hernia, I... |
ORPHA:2470 |
| Achondrogenesis, Type Ii |
|
Disproportionate short-limb short stature, Stillbirth, Broad long bones, Hypoplastic iliac wing, ... |
OMIM:200610 |
| Pelviscapular Dysplasia |
|
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... |
ORPHA:93333 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... |
OMIM:612447 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Dislocated radial head, Multiple joint dislocation, Joint laxity, Metaphyseal irregularity, Carpa... |
OMIM:618395 |
| Frontometaphyseal Dysplasia 1 |
|
Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Broad phalanges of ... |
OMIM:305620 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Osteoporosis, Patellar subluxation, Radial deviation of finger, Clinodactyly, 11 pairs of ribs, T... |
OMIM:309610 |
| Brachydactyly Type B |
|
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... |
ORPHA:93383 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| 3M Syndrome |
|
Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Bulbous nose, Abn... |
ORPHA:2616 |
| Ruvalcaba Syndrome |
|
Convex nasal ridge, Abnormality of vertebral epiphysis morphology, Short nose, Narrow chest, Syno... |
ORPHA:3121 |
| Cleidocranial Dysplasia |
|
Enamel hypoplasia, Wormian bones, Narrow chest, Hypoplastic frontal sinuses, Persistent open ante... |
OMIM:119600 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... |
OMIM:609432 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Craniosynostosis, Narrow chest, Intrau... |
OMIM:251230 |
| Otofacioosseous-Gonadal Syndrome |
|
Short hallux, Genu valgum, Wormian bones, Narrow chest, Underdeveloped nasal alae, Pectus excavat... |
OMIM:601976 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger |
ORPHA:1471 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... |
ORPHA:56304 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... |
OMIM:611377 |
| Cousin Syndrome |
|
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Dislocated radial hea... |
OMIM:260660 |
| Hypophosphatasia, Infantile |
|
Apnea, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Death... |
OMIM:241500 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... |
ORPHA:440354 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Convex nasal ridge, Hypoplasia of the radius, Abnormal dental enamel morphology, To... |
ORPHA:3258 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... |
ORPHA:157801 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
| Autosomal Dominant Omodysplasia |
|
Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Malar flattening,... |
ORPHA:93328 |
| Brachydactyly Type B2 |
|
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... |
ORPHA:140908 |
| Osteoglophonic Dysplasia |
|
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... |
OMIM:166250 |
| Congenital Alveolar Capillary Dysplasia |
|
Intestinal malrotation, Aganglionic megacolon, Asplenia, Anal atresia, Volvulus, Absent gallbladd... |
ORPHA:210122 |
| Langer Mesomelic Dysplasia |
|
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... |
ORPHA:2632 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Joint laxity, Anteverted nares, Cone-shaped epiphysis, Rib fusion, Short foot,... |
OMIM:157800 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... |
OMIM:609441 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... |
ORPHA:2491 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Sprengel anomaly, Aplasia/Hypoplasia... |
ORPHA:1788 |
| Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... |
ORPHA:93394 |
| Van Den Ende-Gupta Syndrome |
|
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Narrow fo... |
OMIM:600920 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Equinovarus deformity, Narrow chest, Camptodactyly, Broad long bones, Bowing of the long bones, A... |
OMIM:224400 |
| Dysosteosclerosis |
|
Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased susceptibility t... |
OMIM:224300 |
| Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Narrow chest, Natal tooth, Increased bone mineral density, Aplas... |
ORPHA:50945 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... |
ORPHA:93409 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Disproportionate shor... |
OMIM:250420 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Desbuquois Dysplasia 1 |
|
Short metatarsal, Joint laxity, Narrow chest, Phalangeal dislocation, Broad first metatarsal, Pes... |
OMIM:251450 |
| Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Depressed... |
OMIM:277150 |
| Mietens Syndrome |
|
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Talipes, Elbow ankylosis,... |
ORPHA:2557 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... |
OMIM:113310 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Metaphyseal irregularity, Narrow chest, Death in infancy, Horizontal rib... |
OMIM:208500 |
| Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement |
OMIM:276821 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... |
OMIM:609052 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... |
ORPHA:3250 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Death in infancy, Ulnar deviation of the hand, Micrognathia, Depressed nasal bridge, Hypoplasia o... |
OMIM:602613 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Lateral clavicle hook, Respiratory distress, Narrow chest, Thoracic hyp... |
OMIM:617895 |
| Fibrochondrogenesis 2 |
|
Short nose, Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, S... |
OMIM:614524 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Postaxial oligodactyly, Malar flattening, Fibular hypoplasia, Short stature, Lowe... |
OMIM:608571 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Mesomelia, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respira... |
OMIM:228940 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Underdeveloped nasal a... |
OMIM:186400 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... |
OMIM:619135 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... |
ORPHA:166002 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Ankle clonus, Hand muscle atrophy, Respiratory failure, Short stature, Delayed skel... |
OMIM:600561 |
| Kyphomelic Dysplasia |
|
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... |
OMIM:211350 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... |
ORPHA:174 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon |
OMIM:304100 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Narrow greater sciatic notch, ... |
OMIM:617925 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplast... |
OMIM:300863 |
| Multiple Synostoses Syndrome 2 |
|
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... |
OMIM:610017 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... |
ORPHA:85170 |
| Holt-Oram Syndrome |
|
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Pe... |
OMIM:142900 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Narrow chest, Elbow dislocation, Flared iliac wing, Hypoplastic frontal sinuse... |
ORPHA:90652 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short hallux, Short metatarsal, Hallux varus, Hitchhiker thumb, Short distal phalanx of finger, S... |
OMIM:112450 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Narrow chest, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... |
OMIM:614091 |
| Pallister-Hall-Like Syndrome |
|
Postaxial hand polydactyly, Short nose, Death in infancy, Short ribs, Pulmonary hypoplasia, Depre... |
OMIM:241800 |
| Hypochondroplasia |
|
Limited elbow extension, Childhood onset short-limb short stature, Aplasia/hypoplasia of the extr... |
OMIM:146000 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... |
ORPHA:3329 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Wide na... |
ORPHA:2256 |
| Crane-Heise Syndrome |
|
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Abnormal... |
ORPHA:1512 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... |
OMIM:609945 |
| Atelosteogenesis, Type Ii |
|
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... |
OMIM:256050 |
| Seckel Syndrome 4 |
|
Steep acetabular roof, Underdeveloped nasal alae, Intrauterine growth retardation, Short stature,... |
OMIM:613676 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Wide nasal bridge, Short stature, Abnormality of the ribs, Diaphyseal ... |
ORPHA:1513 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Abnormal thorax mo... |
OMIM:605274 |
| Du Pan Syndrome |
|
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... |
OMIM:228900 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Mandibular prognathia, Wide nasal bridge, Clinodactyly... |
OMIM:148820 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydacty... |
OMIM:613091 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Advanced ossification of carpal bones, Joint laxity, Pectus excavatum, Flared metaphysis, Carpal ... |
OMIM:615349 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Narrow chest, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypop... |
ORPHA:1865 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... |
OMIM:601438 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Clubbing of fingers, Metaphyseal chondrodysplasia, Choanal stenosis, Bowing of the long bones, Me... |
OMIM:156400 |
| Lethal Recessive Chondrodysplasia |
|
Accelerated skeletal maturation, Respiratory distress, Narrow chest, Flared elbow metaphyses, Gen... |
ORPHA:1423 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... |
ORPHA:2756 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Polydactyly, Syndactyly, Hypoplasia of the epiglottis, Short stat... |
OMIM:300484 |
| Odontochondrodysplasia 1 |
|
Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death in infancy, ... |
OMIM:184260 |
| Muenke Syndrome |
|
Broad thumb, Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalan... |
OMIM:602849 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:600081 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Pe... |
ORPHA:958 |
| Diastrophic Dwarfism |
|
Elbow dislocation, Respiratory insufficiency, Abnormality of the metacarpal bones, Increased bone... |
ORPHA:628 |
| Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Pes planus, Positi... |
ORPHA:566943 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, Flexion cont... |
OMIM:618291 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... |
OMIM:274000 |
| Schneckenbecken Dysplasia |
|
Accelerated skeletal maturation, Lateral clavicle hook, Disproportionate short-limb short stature... |
ORPHA:3144 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontan... |
ORPHA:2347 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Broad thumb, Tarsal synostosis, Elbow dislocation, Death in infancy... |
ORPHA:1106 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Short nose, Narrow chest, Square pelvis bone, Respiratory distress, Jo... |
ORPHA:166272 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Mandibula... |
ORPHA:96334 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Pectus carinatum, Flattened proximal radial epiphyses, Short long bone, Dispro... |
OMIM:271530 |
| Ulna And Fibula, Hypoplasia Of |
|
Fibular hypoplasia, Neonatal short-limb short stature, Hypoplasia of the ulna, Disproportionate s... |
OMIM:191400 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narrow chest, A... |
ORPHA:2635 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Intrauterine growth retardation, ... |
ORPHA:2370 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Abnormality of th... |
ORPHA:2878 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Metatarsus adduct... |
OMIM:271640 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... |
OMIM:606895 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Narrow chest, Short ribs, Thin ribs, Osteopenia, Femoral bowing |
OMIM:618188 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... |
OMIM:156230 |
| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited elbow extension, Dislocated radial head, Radioulnar synostosis |
OMIM:179300 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... |
OMIM:250220 |
| Ivic Syndrome |
|
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... |
OMIM:147750 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplasia, Mandibu... |
OMIM:252600 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Tarsal synostosis, Pes planus, C2-C3 subluxation, Limited elbow extension, Tal... |
OMIM:272460 |
| Symphalangism, Proximal, 1A |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:185800 |
| Grant Syndrome |
|
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... |
ORPHA:2097 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hip dysplasia, Rocker bottom foot, Areflexia of lower limbs, Arthrogryposis multiplex congenita, ... |
OMIM:611890 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... |
ORPHA:957 |
| Feingold Syndrome |
|
Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Annular pancreas |
ORPHA:1305 |
| Distal Symphalangism |
|
Camptodactyly of finger, Joint stiffness, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short m... |
OMIM:605282 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... |
OMIM:612961 |
| Otoonychoperoneal Syndrome |
|
Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Straight clavicles, Hip contracture, ... |
OMIM:259780 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Omodysplasia 1 |
|
Anterolateral radial head dislocation, Increased fibular diameter, Pulmonary artery stenosis, Mic... |
OMIM:258315 |
| Achondrogenesis Type 1B |
|
Short thorax, Disproportionate short stature, Short nose, Narrow chest, Abnormal enchondral ossif... |
ORPHA:93298 |
| Ulnar Hypoplasia |
|
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... |
OMIM:191440 |
| Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... |
ORPHA:388 |
| Mucolipidosis Ii Alpha/Beta |
|
Flared iliac wing, Split hand, Carpal bone hypoplasia, Flat acetabular roof, Pathologic fracture,... |
OMIM:252500 |
| Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Carpal synostosis, Malar flattening, Corona... |
ORPHA:53271 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... |
OMIM:222600 |
| Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Cholestasis, V... |
ORPHA:95427 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Aganglionic megacolon, Lobulated tongue, Cleft palate |
OMIM:174300 |
| Banki Syndrome |
|
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... |
ORPHA:1228 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad phalanx, Short phalanx of finger, Broad metacarpals, Short metacarpal |
OMIM:618724 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Enlarged joints, Thoracic hypoplasia, Pectus excavatum, Limb undergrowth... |
ORPHA:156728 |
| Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Synostosis of carpals/tarsals, Coales... |
OMIM:301940 |
| Osteopathia Striata With Cranial Sclerosis |
|
Delayed closure of the anterior fontanelle, Camptodactyly, Natal tooth, Spina bifida occulta, Mic... |
OMIM:300373 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia,... |
OMIM:617866 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis |
OMIM:607278 |
| Mental Retardation, X-Linked 91 |
|
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, Short 5th finger |
OMIM:300577 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Short clavicles, Spina bifida... |
OMIM:169550 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Craniosynostosis, Short phalanx of finger, Cone-shaped epiphysis, Short ribs, Short stature, Shor... |
OMIM:266920 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Prominent sternum, Hypoplastic pelvis, ... |
OMIM:304950 |
| Autosomal Recessive Omodysplasia |
|
Hypoplastic distal humeri, Craniosynostosis, Short nose, Elbow dislocation, Rhizomelia, Abnormali... |
ORPHA:93329 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Short nose, Micrognathia, Sandal gap, Malar flattening, Delayed puberty, Clinodac... |
ORPHA:217340 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Tubular metacarpal bones, Spin... |
OMIM:211910 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thick nasal alae, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening, Wide nose |
ORPHA:357175 |
| Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
| Achondrogenesis Type 1A |
|
Short thorax, Short nose, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Se... |
ORPHA:93299 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex congenita, Pectu... |
OMIM:178110 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... |
OMIM:177170 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... |
ORPHA:474 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Knee pain... |
ORPHA:93308 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Cone-shaped epiphysis, Short foot, Fifth metacarpal with ulnar notch, Sh... |
OMIM:102370 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Amelogenesis imperfecta, Broad ribs, Rhizomelia, Short humerus, Short ribs, Short clavicles, Shor... |
OMIM:610319 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Neonatal short-limb short stature, ... |
OMIM:225500 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... |
ORPHA:3320 |
| Melnick-Needles Syndrome |
|
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp... |
OMIM:309350 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... |
ORPHA:1350 |
| Brachymesomelia-Renal Syndrome |
|
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... |
OMIM:113470 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Delayed ossification of carpal bones, Lower limb undergrowth, Joint stif... |
OMIM:127200 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Severe short stature,... |
OMIM:250460 |
| Dyssegmental Dysplasia With Glaucoma |
|
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Short stature, Dela... |
OMIM:601561 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Lateral clavicle hook, Postaxial hand polydactyly, Thoracic hypoplasia, Bell-shaped ... |
OMIM:615630 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Craniosynostosis, Tarsal synostosis, Bulbous nose, Narrow chest, Choanal stenosis, Camptodactyly,... |
ORPHA:95699 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormality of th... |
OMIM:602196 |
| Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Birth length less than 3rd ... |
OMIM:224690 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Abnormality of epiphysis morphology, Hip osteoarthritis, Short middle phalanx of f... |
ORPHA:63442 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Inspiratory stridor, Cone-shaped epiphysis, Osteoarthritis, Small hand, Delayed epiph... |
OMIM:618618 |
| Fibrodysplasia Ossificans Progressiva |
|
Short hallux, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossification in musc... |
OMIM:135100 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Bulbous nose, Anteverted nares, Abnormality of epiphysis morphol... |
ORPHA:969 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... |
OMIM:607078 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory tract infection, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sa... |
OMIM:607143 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Short toe, Short nose, Short foot, Wide nasal bridge, Short stature, Short metacarpa... |
OMIM:614078 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Mental Retardation, Autosomal Recessive 35 |
|
Thick nasal alae, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening, Wide nose |
OMIM:615162 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enamel hypoplasia, Metaphyseal irregularity, Bulging of the costochondral junc... |
OMIM:264700 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Meier-Gorlin Syndrome 3 |
|
Narrow chest, Birth length less than 3rd percentile, Bronchomalacia, Micrognathia, Hypoplasia of ... |
OMIM:613803 |
| Cranioectodermal Dysplasia 1 |
|
Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, Osteoporosis, Broa... |
OMIM:218330 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Accelerated skeletal maturation, Genu valgum, Short thorax, Disproportionate short stature, Cario... |
OMIM:618363 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Pectus excavatum, ... |
OMIM:614399 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Choanal stenosis, Craniofacial hyperostosis, Mandibular progn... |
OMIM:122860 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Anteverted nares, Joint hyperflexibility, Respiratory insufficiency, Mal... |
ORPHA:1488 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Achondroplasia |
|
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, L... |
ORPHA:15 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical b... |
ORPHA:2790 |
| Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Elbow dislocation, Respiratory insufficiency, Club-shaped distal femur, Ab... |
ORPHA:56305 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... |
OMIM:113450 |
| Wt Limb-Blood Syndrome |
|
Short phalanx of finger, Radioulnar synostosis, Joint contracture of the 5th finger, Ulnar deviat... |
OMIM:194350 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Bell-shap... |
OMIM:187760 |
| Pallister W Syndrome |
|
Radial bowing, Cubitus valgus, Agenesis of central incisor, Pes planus, Camptodactyly, Agenesis o... |
OMIM:311450 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... |
OMIM:173800 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Tapered finge... |
OMIM:311895 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Vertebral hypoplasia, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hypoplastic p... |
OMIM:308050 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short phalanx of finger, Camptodactyly, Short toe, Hip dislocation, Tapered finger, Proximal plac... |
OMIM:613458 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... |
OMIM:151200 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip subluxation, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dysplasia, Short ... |
OMIM:268305 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Sho... |
ORPHA:988 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Metaphyseal irregularity, Bulging of the cos... |
OMIM:277440 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal vocal cord morphology, Synostosis of carpal bones, Bilateral single transverse palmar cr... |
ORPHA:3191 |
| Nasodigitoacoustic syndrome |
|
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... |
OMIM:255980 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Growth delay, Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short s... |
ORPHA:52056 |
| Pfeiffer Syndrome |
|
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Mandibular prognathia,... |
ORPHA:710 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:241530 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... |
ORPHA:1113 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... |
OMIM:250230 |
| Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... |
OMIM:600785 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Convex nasal ridge, Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Short sternu... |
OMIM:266910 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna |
OMIM:314360 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow dislocation, Pes ... |
OMIM:143095 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... |
OMIM:614900 |
| Bone Dysplasia, Lethal, Holmgren Type |
|
Narrow chest, Bell-shaped thorax, Short ribs, Respiratory insufficiency, Short stature |
OMIM:211120 |
| Parana Hard Skin Syndrome |
|
Pectus carinatum, Growth delay, Restricted chest movement, Respiratory insufficiency, Short statu... |
ORPHA:2812 |
| Codas Syndrome |
|
Enamel hypoplasia, Genu valgum, Squared iliac bones, Delayed eruption of teeth, Short phalanx of ... |
OMIM:600373 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Mesomelia, Long thorax, Abnormal shoulder morphology, Micrognathia, Brachydac... |
ORPHA:1277 |
| Kinsship Syndrome |
|
Dislocated radial head, Respiratory arrest, Bulbous nose, Polydactyly, Supernumerary ribs, Pes pl... |
OMIM:619297 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Aphalangy of the hands,... |
OMIM:218600 |
| Weaver Syndrome |
|
Accelerated skeletal maturation, Broad thumb, Camptodactyly, Mandibular prognathia, Metatarsus ad... |
OMIM:277590 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Acrorenal-Mandibular Syndrome |
|
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow chest, Spl... |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Natal tooth, Horizontal ribs, Respiratory insufficiency, Bowing of the legs, Broad ... |
OMIM:269860 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Sho... |
ORPHA:163649 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Synostosis of carpal bones, Finger syndactyly, Short middle ph... |
ORPHA:1005 |
| Acrocephalopolydactyly |
|
Short nose, Genu recurvatum, Thoracic hypoplasia, Limb undergrowth, Short long bone, Depressed na... |
ORPHA:221054 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short thorax, Carious teeth, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... |
OMIM:617102 |
| Opsismodysplasia |
|
Squared iliac bones, Broad thumb, Short nose, Narrow chest, Abnormality of epiphysis morphology, ... |
ORPHA:2746 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Postaxial polydactyly, Aplasia/Hypoplasia involving bones of the thorax, Short digit, Micrognathi... |
ORPHA:397715 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Tracheomalacia, Atele... |
ORPHA:896 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Elbow dislocation, Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged... |
OMIM:210710 |
| Acheiropody |
|
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... |
OMIM:200500 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ribs, Narrow chest, Abnormality of epiphysis mor... |
ORPHA:93267 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Severe short-limb dwarfism, Narrow chest, Rhizomelia, Anterior rib pu... |
ORPHA:1426 |
| Metaphyseal Acroscyphodysplasia |
|
Accelerated skeletal maturation, Abnormality of femur morphology, Depressed nasal ridge, Bowing o... |
ORPHA:1240 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Dyspnea, Short nose, Respiratory distress, Delayed cranial suture closure, Re... |
ORPHA:1832 |
| Ulbright-Hodes Syndrome |
|
Postnatal growth retardation, Birth length less than 3rd percentile, Large beaked nose, Phocomeli... |
ORPHA:3404 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga |
OMIM:132450 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic... |
OMIM:608728 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Sho... |
OMIM:615503 |
| Acrocapitofemoral Dysplasia |
|
Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short palm, Pectus excavatum, Co... |
ORPHA:63446 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Narrow chest, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Sh... |
OMIM:611263 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge |
OMIM:218650 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Fifth... |
ORPHA:2839 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| W Syndrome |
|
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... |
ORPHA:2804 |
| Distal Trisomy 5Q |
|
Hypoplasia of the radius, Craniosynostosis, Carious teeth, Short nose, Hypoplasia of the ulna, Sh... |
ORPHA:96097 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Arthrogryposis multiplex congenita, Respiratory distress, Short ribs, Respiratory insufficiency, ... |
ORPHA:1145 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... |
OMIM:156500 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint hypermobilit... |
ORPHA:356961 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Abnormal hip bone morphol... |
ORPHA:1323 |
| Cardiospondylocarpofacial Syndrome |
|
Failure of eruption of permanent teeth, Synostosis of carpal bones, Severe short stature, Brachyd... |
ORPHA:3238 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteoporosis, Short nose, Pectus excavatum, Hypoplasia of the ulna, Ankle clonus, Osteopenia, Ant... |
OMIM:615398 |
| Femoral-Facial Syndrome |
|
Hip dysplasia, Short femur, Radioulnar synostosis, Short nose, Sprengel anomaly, Preaxial foot po... |
ORPHA:1988 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Intrauterine gro... |
ORPHA:2145 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... |
ORPHA:2307 |
| Roberts Syndrome |
|
Craniosynostosis, Underdeveloped nasal alae, Bilateral single transverse palmar creases, Sandal g... |
ORPHA:3103 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Poland Syndrome |
|
Absent hand, Split hand, Abnormal sternum morphology, Unilateral brachydactyly, Spina bifida occu... |
ORPHA:2911 |
| Kniest-Like Dysplasia, Lethal |
|
Lethal short-limbed short stature, Broad ribs, Metaphyseal irregularity, Narrow chest, Short diap... |
OMIM:245190 |
| Waardenburg-Shah Syndrome |
|
Aganglionic megacolon, Abnormal intestine morphology, Intestinal obstruction |
ORPHA:897 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Disproportionate short stature, Broa... |
OMIM:609616 |
| L1 Syndrome |
|
Aganglionic megacolon, Skeletal muscle atrophy |
ORPHA:275543 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Malabsorption, Aganglionic megacolon, Exocrine pancreatic insufficiency |
ORPHA:452 |
| Multiple Metaphyseal Dysplasia |
|
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... |
ORPHA:93430 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral n... |
OMIM:617719 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Externally rotated hips, Death in early adulthood, Short stature, Micromelia |
ORPHA:79107 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, J... |
ORPHA:93387 |
| Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
| Pyknoachondrogenesis |
|
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Poorly ossified vertebrae... |
ORPHA:3003 |
| Occipital Horn Syndrome |
|
Osteoporosis, Limited elbow extension, Genu valgum, Convex nasal ridge, Broad ribs, Narrow chest,... |
OMIM:304150 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with na... |
OMIM:608154 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Severe short stature, Wide nasal bridge, Hypoplastic nasal septum, Neo... |
OMIM:112310 |
| Anauxetic Dysplasia 1 |
|
Disproportionate short stature, Delayed ossification of carpal bones, Hypoplastic ilia, Short fin... |
OMIM:607095 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Hypoplasia of the radius, Convex nasal ridge, Radioulnar synostosis, Meso... |
OMIM:617604 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Bone pain, Postnatal growth retardation, Rachitic rosary, Increased susceptibi... |
ORPHA:289157 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Squared iliac bones, Unicoronal synostosis, Narrow chest, Hypoplastic pelvis, Microretrognathia, ... |
OMIM:616300 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Flattened femo... |
ORPHA:93284 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Pe... |
ORPHA:457395 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Arthrogryposis multiplex congenita, Narrow chest, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:208081 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... |
OMIM:249710 |
| Cenani-Lenz Syndactyly Syndrome |
|
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Bowing of the lo... |
ORPHA:2631 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly, Camptodactyly, Hypoplasia of th... |
OMIM:258865 |
| Acheiropodia |
|
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... |
ORPHA:931 |
| Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Short phalanx of finger, Narrow chest, Underdeveloped ... |
OMIM:180870 |
| Duane-Radial Ray Syndrome |
|
Choanal stenosis, Pes planus, Choanal atresia, Sandal gap, Absent radius, Short thumb, Spina bifi... |
OMIM:607323 |
| Ondine Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Disproportionate short stature, Joint hyperflexibility, Sprengel anomaly, Bowing of the long bone... |
ORPHA:40 |
| Diaphanospondylodysostosis |
|
Short thorax, Respiratory distress, Enlarged thorax, Absent or minimally ossified vertebral bodie... |
ORPHA:66637 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Polydactyly, Short ribs, Short long bone, Short stature, Brachydactyly |
OMIM:613819 |
| Hypochondroplasia |
|
Short toe, Sleep apnea, Childhood onset short-limb short stature, Joint hyperflexibility, Abnorma... |
ORPHA:429 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Underdeveloped nasal alae, Abnormality of the metacarpal bones, Absent radius,... |
ORPHA:2378 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Coxa magna, Short metatarsal, Short phalanx of finger, Short finger, Short metacarpal, Avascular ... |
OMIM:190351 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Missing ribs, Pseudoarthrosis, Short ribs |
OMIM:618155 |
| Rhizomelic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, Limb undergr... |
ORPHA:177 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... |
OMIM:618167 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... |
ORPHA:2633 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Underdeveloped nasal alae, Limited shoulder movement, Micrognathia, Preax... |
OMIM:134780 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip dysplasia, Shortening of all distal phalanges of the fingers, Bulbous nose, Growth delay, 2-3... |
OMIM:616809 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the ankles, Tarsal synostosis, Abnormality of the wrist, Carpal synostosis |
ORPHA:2010 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Dyspnea, Respiratory distress, Joint hyperflexibility, Long palm, Choanal atresia, Wide nasal bri... |
ORPHA:2759 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... |
ORPHA:2319 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon |
OMIM:613603 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Osteoarth... |
ORPHA:1427 |
| Achondrogenesis |
|
Short thorax, Short nose, Narrow chest, Abnormal enchondral ossification, Severe short stature, A... |
ORPHA:932 |
| Desbuquois Syndrome |
|
Abnormal femoral neck/head morphology, Camptodactyly of finger, Accelerated skeletal maturation, ... |
ORPHA:1425 |
| Harrod Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow pala... |
OMIM:601095 |
| Diaphanospondylodysostosis |
|
Short nose, Respiratory distress, Thoracic hypoplasia, Bell-shaped thorax, Tracheomalacia, Hammer... |
OMIM:608022 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Flexion contracture, Hyperextensibility at wrists, Adducted thumb, Pes valgus, Incr... |
ORPHA:75840 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
| Cerebrocostomandibular Syndrome |
|
Anomalous tracheal cartilage, Congenital hip dislocation, Thoracic hypoplasia, Bell-shaped thorax... |
OMIM:117650 |
| Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Abnormality of the ribs, Disproportionate short stature, Narrow ... |
ORPHA:1354 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent radius, Triphalangeal thumb, Micrognathia, Hypoplasia of first ribs, Hallux valgus, Limite... |
OMIM:154400 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Contractures of the interphalangeal joint of the thumb, Abnormal autonomic... |
OMIM:613870 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Peg-lik... |
OMIM:300232 |
| Melnick-Needles Syndrome |
|
Narrow chest, Respiratory insufficiency, Short distal phalanx of finger, Short clavicles, Abnorma... |
ORPHA:2484 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Thoracopelvic Dysostosis |
|
Neonatal respiratory distress, Short stature, Short ribs |
OMIM:187770 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Pectus excavatum, Gr... |
OMIM:263750 |
| Bresek Syndrome |
|
Cryptorchidism, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Intrauterine growth ... |
ORPHA:85284 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Patellar subluxation, Finger clinodactyly, Bilateral talipes equinovarus, Retrognat... |
ORPHA:2958 |
| Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Microretrognathia, Metacarpal synostosis, Mesomelic short stature, Mesomelia,... |
OMIM:600383 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Massively thickened long bone cortices, Pectus excavatum, Limb undergrowth, Short stature, Brachy... |
OMIM:122900 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... |
ORPHA:363417 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short forearm, Mesomelic short stature, Madelung deformity, Short tibia, Ulnar bowing |
OMIM:127350 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... |
ORPHA:2204 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... |
ORPHA:2879 |
| Axial Spondylometaphyseal Dysplasia |
|
Proximal femoral metaphyseal irregularity, Short nose, Rhizomelia, Thoracic hypoplasia, Delayed s... |
ORPHA:168549 |
| Smith-Mccort Dysplasia 2 |
|
Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, Broad metatarsa... |
OMIM:615222 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Prominent sternum, Obstructive sleep apnea, Short nose, Pectus excavatum, Short 5th metacarpal, S... |
OMIM:617877 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short ... |
ORPHA:168555 |
| Hyperekplexia 4 |
|
Camptodactyly, Flexion contracture, Distal arthrogryposis, Respiratory failure, Talipes equinovar... |
OMIM:618011 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... |
OMIM:300244 |
| Metacarpal 4-5 Fusion |
|
Fused fourth and fifth metacarpals |
OMIM:309630 |
| Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
| Laron Syndrome |
|
Severe short stature, Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed skele... |
OMIM:262500 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Camptodactyly of finger, Scapular winging, Toe syndactyly, Short nose, Narrow che... |
ORPHA:1327 |
| Nail-Patella Syndrome |
|
Pes planus, Iliac horns, Antecubital pterygium, Quadriceps aplasia, Hypoplasia of first ribs, Lim... |
OMIM:161200 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... |
OMIM:186550 |
| Diarrhea 2, With Microvillus Atrophy |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Delayed ossification of carpal bones, Metaphyseal dysplasia, Short sta... |
OMIM:617974 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Barrel-s... |
OMIM:276820 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, Laryngotrach... |
ORPHA:93360 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Small epiphyses, D... |
OMIM:611717 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Mic... |
ORPHA:246 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Severe short-limb dwarfism, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abno... |
ORPHA:968 |
