| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
| Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... |
ORPHA:1453 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
| Banki Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... |
ORPHA:1228 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Thumbs h... |
OMIM:211369 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
| Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
| Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... |
OMIM:113000 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... |
OMIM:132400 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly |
OMIM:233270 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Hip dysplasia, Scolios... |
OMIM:226900 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
| 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 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... |
OMIM:615170 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis, Fine hair, Ano... |
ORPHA:1839 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Chondrocalcino... |
OMIM:118610 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Symphalangism a... |
ORPHA:3237 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... |
OMIM:618435 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... |
ORPHA:93351 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... |
OMIM:151200 |
| Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
| Anauxetic Dysplasia 3 |
|
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Pectus ex... |
OMIM:618853 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb |
ORPHA:1471 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... |
ORPHA:485 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Hypertelorism, Spina bifida |
ORPHA:945 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... |
OMIM:184260 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... |
OMIM:608940 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal for... |
ORPHA:40 |
| Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... |
ORPHA:1350 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra... |
ORPHA:93284 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Scoliosis, Abnormality of the ankles, Brachydactyly, Bilateral single transverse... |
ORPHA:968 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... |
OMIM:156510 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Craniofacial Conodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
| Brachydactyly, Type A1, D |
|
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis,... |
OMIM:146000 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
| Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... |
OMIM:618150 |
| Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... |
OMIM:613073 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Distal foot symphalangism, Absent dorsal skin creas... |
OMIM:185700 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb |
OMIM:108450 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... |
ORPHA:3269 |
| Smith-Mccort Dysplasia 1 |
|
Kyphosis, Multicentric femoral head ossification, Beaking of vertebral bodies, Hypoplastic acetab... |
OMIM:607326 |
| Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Scoliosis, Abnormal fo... |
ORPHA:263463 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... |
OMIM:618469 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... |
ORPHA:2522 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
| Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Micrognathia, Short neck, Abnor... |
ORPHA:3098 |
| Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Absent dorsal skin creases over affected joints, Proximal symphalangism of hands, Small thenar em... |
OMIM:185750 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia |
OMIM:248110 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Delayed eruption of... |
OMIM:305620 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes e... |
OMIM:601560 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Abnormal hand morpholog... |
ORPHA:93307 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Brachydactyly, Short thumb |
ORPHA:435804 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Neoplasm of the lung, Intestinal obstruction... |
ORPHA:2591 |
| Thiemann Disease |
|
Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Short metacarpal, Osteoarthritis, Irregula... |
OMIM:600969 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... |
OMIM:274000 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... |
ORPHA:90652 |
| Acromicric Dysplasia |
|
Joint stiffness, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Small hand, ... |
ORPHA:969 |
| Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Platyspondyly, Upper limb undergrowth, Disproportionate short-... |
ORPHA:168549 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sand... |
OMIM:256050 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... |
ORPHA:1801 |
| Exostoses, Multiple, Type Ii |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133700 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... |
OMIM:601356 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
| Ruvalcaba Syndrome |
|
Narrow chest, Kyphosis, Small hand, Scoliosis, Micromelia, Limited elbow extension, Short phalanx... |
OMIM:180870 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... |
ORPHA:166011 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Disproportionate short-limb short stature, Neonatal short-limb short stature, ... |
OMIM:222600 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s... |
ORPHA:2470 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... |
OMIM:113450 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... |
OMIM:215150 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... |
OMIM:102510 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Enlarged kidney, Hypoplasia of the ulna, Sho... |
OMIM:613091 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilo... |
OMIM:609637 |
| Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... |
OMIM:260660 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... |
ORPHA:1427 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... |
OMIM:263540 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1795 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... |
OMIM:100800 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Shield chest, Short neck, Cubitus valgus, Short metacarpal |
ORPHA:261524 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... |
OMIM:184460 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Legg-Calvé-Perthes Disease |
|
Avascular necrosis, Cartilage destruction, Delayed skeletal maturation, Joint dislocation |
ORPHA:2380 |
| Camptomelic Syndrome, Long-Limb Type |
|
Micromelia, Bowing of the long bones |
OMIM:211990 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... |
ORPHA:2619 |
| Brachydactyly Type E |
|
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... |
ORPHA:93387 |
| Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Barrel-shaped ... |
OMIM:615222 |
| Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Micrognathia, Tapered finger, Large hands, Short 5th metacarpal |
OMIM:102150 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Dental malocclusion, Flat ... |
OMIM:612350 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Pectus excavatum, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Hors... |
OMIM:609945 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... |
OMIM:250230 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... |
OMIM:304950 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
| Cooks Syndrome |
|
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb |
ORPHA:1487 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Short 5th metacarpal, Short finger |
OMIM:604381 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Hypertelorism, Radial club hand, Microcephaly, Abnormal morphology of the radius, Proptosis, Cycl... |
ORPHA:2165 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Eng-Strom Syndrome |
|
Pectus excavatum, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis |
ORPHA:1937 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... |
ORPHA:1826 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... |
ORPHA:2347 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger, Holoprosencephaly |
OMIM:300706 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Gen... |
ORPHA:429 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
| Acromesomelic Dysplasia 1 |
|
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... |
OMIM:602875 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Short foot, Patell... |
OMIM:614078 |
| Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... |
OMIM:619636 |
| Pseudotrisomy 13 Syndrome |
|
Hypotelorism, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Encephalocele, Micropenis, M... |
OMIM:264480 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... |
ORPHA:9 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Pectus excavatum, Short metacarpal, Platyspondyly, Short neck, Small epiphyses, Short long bone, ... |
OMIM:611717 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Barrel-shaped chest,... |
OMIM:610915 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Holoprosencephaly |
OMIM:617967 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... |
ORPHA:56304 |
| Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Ulnar deviation of thum... |
OMIM:194350 |
| Acces Syndrome |
|
Sparse scalp hair, Tracheoesophageal fistula, Supernumerary nipple, Recurrent respiratory infections |
OMIM:619959 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... |
ORPHA:2879 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Arthrogryposis, Distal, Type 3 |
|
Pectus excavatum, Congenital hip dislocation, Short neck, Down-sloping shoulders, Single transver... |
OMIM:114300 |
| Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... |
OMIM:304120 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Pectus excavatum, Malar flattening, Short phalanx of finger, Tapered finger, Camptodac... |
OMIM:613458 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
| Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:2790 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short neck, Cervic... |
OMIM:617396 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia, Low anterior hairline, Sparse hair, Distichiasis, Absent lower eyelashes |
OMIM:227260 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... |
OMIM:134780 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Horizontal... |
OMIM:108721 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
| Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... |
OMIM:311300 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Glenoid ... |
ORPHA:85170 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Ventricular septal defect, Broad ribs... |
OMIM:300373 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly |
OMIM:263450 |
| Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Encephalocele, Microcephaly, Anophthalmia, Polydactyly, Postaxial hand polyd... |
OMIM:613885 |
| Trisomy 18 |
|
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Intrauterine... |
ORPHA:3380 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, Micr... |
OMIM:215140 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the vertebral column, Syndact... |
ORPHA:294975 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery, Abnormality of the pancreas |
ORPHA:1203 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Disproportionate short-limb short stature, Aplasia of the proximal phalanx of ... |
OMIM:609441 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Abnormality of the liver, Gastroesophageal reflux, Congenital diaphragmatic hernia,... |
ORPHA:1834 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Intrauterine growth retardation, Deeply set eye, Hypertelorism, Adducted thumb, Brachydactyly, Fi... |
OMIM:614257 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
| Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly |
ORPHA:391646 |
| Greenberg Dysplasia |
|
Narrow chest, Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossifi... |
ORPHA:1426 |
| Iniencephaly |
|
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Talipes equinovarus, Holoprosenc... |
ORPHA:63259 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Pectus carinatum, Shor... |
OMIM:184255 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism |
OMIM:615983 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Tibial Hemimelia |
|
Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus... |
ORPHA:93322 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Chole... |
OMIM:615710 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:615771 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short distal phalanx of the thumb, Brachydactyly, Short phalanx of hallux |
ORPHA:2150 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Accelerated skeletal maturation, Carious teeth, Genu valgum, Small epiphyses, Thoracic hypoplasia... |
OMIM:618363 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:274210 |
| Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Rocke... |
OMIM:265000 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Aplasia/Hypoplasia of th... |
OMIM:200700 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... |
OMIM:616549 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Pulmonary... |
ORPHA:3032 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
| Pseudopseudohypoparathyroidism |
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Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... |
ORPHA:79445 |
| Anaplastic Thyroid Carcinoma |
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Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Nodular goiter, Neoplasm of the l... |
ORPHA:142 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Desbuquois Dysplasia 1 |
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Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... |
OMIM:251450 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
| Sillence Syndrome |
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Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... |
ORPHA:3168 |
| Metachondromatosis |
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Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis |
OMIM:156250 |
| Pde4D Haploinsufficiency Syndrome |
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Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Upper limb undergrowth, Ca... |
ORPHA:439822 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
| Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Aminopterin/Methotrexate Embryofetopathy |
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Hydrocephalus, Aplasia/Hypoplasia of the thumb, Hypertelorism, Short stature, Holoprosencephaly, ... |
ORPHA:1908 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
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Micrognathia, Radial club hand, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, P... |
ORPHA:1278 |
| Desbuquois Dysplasia 2 |
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Pectus excavatum, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Pe... |
OMIM:615777 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia |
ORPHA:530983 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... |
OMIM:171480 |
| Renal Hypodysplasia/Aplasia 4 |
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Pulmonary hypoplasia |
OMIM:619887 |
| Diastrophic Dysplasia |
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Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
| Leri-Weill Dyschondrosteosis |
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Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morphology |
ORPHA:1277 |
| Acrodysostosis |
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Spinal canal stenosis, Short toe, Accelerated skeletal maturation, Abnormal morphology of ulna, H... |
ORPHA:950 |
| Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
| Vissers-Bodmer Syndrome |
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Intrauterine growth retardation, Holoprosencephaly, Tapered finger, Short stature |
OMIM:619033 |
| Phenobarbital Embryopathy |
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Hypertelorism, Hypospadias, Microcephaly, Brachydactyly, Low-set ears, Aplasia/Hypoplasia of fingers |
ORPHA:1919 |
| Achondroplasia |
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Rhizomelia, Thoracic hypoplasia, Short long bone, Spinal canal stenosis, Narrow greater sciatic n... |
ORPHA:15 |
| Tetramelic Monodactyly |
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Split hand, Oligodactyly |
ORPHA:2564 |
| Chromosome 15Q13.3 Deletion Syndrome |
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Brachydactyly, Abnormal pinna morphology, Clinodactyly of the 5th finger, Hypertelorism |
OMIM:612001 |
| Microcephaly, Short Stature, And Limb Abnormalities |
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Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... |
ORPHA:166024 |
| Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
| Solitary Median Maxillary Central Incisor |
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Hypotelorism, Microcephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia |
OMIM:147250 |
| Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
| Lethal Congenital Contracture Syndrome 11 |
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Pulmonary hypoplasia |
OMIM:617194 |
| Camptobrachydactyly |
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Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
| Mesomelic Dysplasia, Savarirayan Type |
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Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Abnormal thorax morphol... |
OMIM:605274 |
| Microphthalmia With Brain And Digit Anomalies |
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Sensorineural hearing impairment, Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplas... |
ORPHA:139471 |
| Acrofacial Dysostosis, Palagonia Type |
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Malar flattening, Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral... |
OMIM:601829 |
| Ruvalcaba Syndrome |
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Narrow chest, Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Scolio... |
ORPHA:3121 |
| Gordon Syndrome |
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Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly of finger, Scoliosis, Limitation ... |
ORPHA:376 |
| Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Brachydactyly-Syndactyly, Zhao Type |
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Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Deeply set eye, Adducted thumb, Holoprosencephaly, Camptodactyly of finger, Hydranencephaly, Intr... |
ORPHA:2570 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu... |
ORPHA:2511 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel... |
OMIM:276820 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Emery-Nelson Syndrome |
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Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... |
ORPHA:1927 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... |
OMIM:186400 |
| Distal Monosomy 13Q |
|
Hypertelorism, Short stature, Holoprosencephaly, Anencephaly, Abnormal metacarpal morphology, Iri... |
ORPHA:1590 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Tracheoesophageal fistula, Alveolar capillary dysplasia, Congenital shortened small... |
OMIM:265380 |
| Pseudopseudohypoparathyroidism |
|
Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Short meta... |
OMIM:612463 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| 20Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Hypertelorism, Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly,... |
ORPHA:444051 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Hartsfield Syndrome |
|
Hypertelorism, Aplasia/Hypoplasia of the radius, Split hand, Encephalocele, Intrauterine growth r... |
ORPHA:2117 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Talipes equinovarus, Hypertelorism, Median cleft palate, Short stature, Bilateral talipes equinov... |
OMIM:119800 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Hand muscle weakness, Hand muscle atrophy |
OMIM:607641 |
| Leri Pleonosteosis |
|
Joint stiffness, Abnormality of finger, Genu recurvatum, Abnormally straight spine, Camptodactyly... |
ORPHA:2900 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Neonata... |
ORPHA:2839 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, A... |
ORPHA:2635 |
| Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Abnormality of the ankles, Micromelia, Abnormality of the humeru... |
ORPHA:2496 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Cyc... |
ORPHA:990 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Accelerated skeletal maturation, Malar flattening, Cone-shaped epiphysis, ... |
OMIM:614613 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum |
OMIM:618392 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Reduced bone mineral density, Scoliosis, Abnormal form of the ver... |
ORPHA:2370 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Paucity of ... |
OMIM:611890 |
| Ollier Disease |
|
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Multiple e... |
ORPHA:296 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly |
ORPHA:238446 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly, Proptosis, Cryptorchidism, Intrauterine growth ret... |
ORPHA:3303 |
| Holoprosencephaly |
|
Hydrocephalus, Short neck, Ventricular septal defect, Median cleft lip and palate, Proteinuria, E... |
ORPHA:2162 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Holoprosencephaly, Chorioretinal coloboma |
OMIM:611638 |
| Salivary Duct Calculi |
|
Parotitis |
OMIM:181010 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Scoliosis, Abnormal form of the vertebral bodies, D... |
ORPHA:1458 |
| Hydrolethalus |
|
Deeply set eye, Cryptorchidism, Micrognathia, Anencephaly, Low-set, posteriorly rotated ears, Arr... |
ORPHA:2189 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Pectus excavatum, Talipes equinovarus, Osteopenia, Camptodactyly of finger, Short neck, Micrognat... |
OMIM:211920 |
| Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
