| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... |
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 middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Long-Thumb Brachydactyly Syndrome |
|
Long thumb, Brachydactyly, Short finger |
OMIM:112430 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... |
OMIM:606835 |
| Cleidorhizomelic Syndrome |
|
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... |
ORPHA:1453 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly |
OMIM:176305 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Thiemann Disease, Familial Form |
|
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly |
ORPHA:3314 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... |
OMIM:112800 |
| Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... |
OMIM:607004 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly |
ORPHA:1078 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Brachydactyly, Type A2, With Microcephaly |
|
Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger, Type A2 brachydactyly,... |
OMIM:211369 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
| Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Brachydactyly, Combined B And E Types |
|
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... |
OMIM:112440 |
| Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... |
OMIM:113000 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... |
OMIM:611702 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Talipes equinovarus, Hypoplasia of the fem... |
OMIM:226900 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... |
OMIM:132400 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... |
ORPHA:1436 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Wahab Syndrome |
|
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... |
OMIM:615170 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, Microcephaly |
OMIM:615771 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... |
OMIM:271700 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Short middle... |
OMIM:186000 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fib... |
ORPHA:1839 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Delayed s... |
ORPHA:3268 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... |
OMIM:271650 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... |
OMIM:609052 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... |
ORPHA:3237 |
| Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Malar flattening, 11 pairs of ribs,... |
OMIM:108720 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of e... |
ORPHA:93351 |
| Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... |
OMIM:618435 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Genu varum, Metaphyseal dysplasia, Metaphyseal cupping of me... |
OMIM:250460 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger |
ORPHA:1471 |
| Acalvaria |
|
Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephalus, Postaxial hand polydactyly |
ORPHA:945 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Anauxetic Dysplasia 3 |
|
Pectus excavatum, Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Gen... |
OMIM:618853 |
| Kniest Dysplasia |
|
Aplasia/hypoplasia of the extremities, Short thorax, Short long bone, Coronal cleft vertebrae, Ve... |
ORPHA:485 |
| Odontochondrodysplasia 1 |
|
Genu varum, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger, Short long bone,... |
OMIM:184260 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
| Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Hypercholesterolem... |
OMIM:610947 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... |
OMIM:156510 |
| Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
| Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... |
OMIM:305620 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly |
OMIM:112410 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... |
OMIM:223800 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Malar flattening, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metop... |
OMIM:309620 |
| Hypochondroplasia |
|
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... |
OMIM:146000 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... |
OMIM:185700 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Micrognathia, Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae,... |
ORPHA:2522 |
| Brachydactyly, Type A1, D |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short distal phalanx of the 2nd finge... |
OMIM:616849 |
| Saul-Wilson Syndrome |
|
Micrognathia, Pectus excavatum, Talipes equinovarus, Pectus carinatum, Short metatarsal, Platyspo... |
OMIM:618150 |
| Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplastic scapulae, Beaking of verte... |
OMIM:607326 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Abnormal cartilage matrix |
OMIM:245650 |
| Asymmetric Short Stature Syndrome |
|
Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
| Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Abnormality of the elbow, K... |
ORPHA:263463 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cleft upper lip, Anophthalmia, Solitary median maxillary central incisor, Decreas... |
OMIM:147250 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Short ne... |
OMIM:618469 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Radial club hand, Abnormality of the diencephalon, Hypertelorism, Abnormality of th... |
ORPHA:2165 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia, Fibular hypop... |
OMIM:601560 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Short phalanx of finger, Ovoid vertebra... |
OMIM:102370 |
| Exostoses, Multiple, Type I |
|
Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Protuberances at end... |
OMIM:133700 |
| Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... |
ORPHA:50809 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Large for gestational age |
OMIM:248110 |
| Infantile Myofibromatosis |
|
Abnormal intestine morphology, Neoplasm of the lung, Abnormal hair morphology, Neoplasm of the pa... |
ORPHA:2591 |
| Exostoses, Multiple, Type Ii |
|
Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Protuberances at end... |
OMIM:133701 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... |
OMIM:135100 |
| Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality... |
ORPHA:3098 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
| Tetrasomy X |
|
Hypertelorism, Hip dysplasia, Premature ovarian insufficiency, Abnormality of the dentition, Clin... |
ORPHA:9 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx, Avascular necrosis |
OMIM:165700 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... |
ORPHA:168549 |
| Heart-Hand Syndrome Type 3 |
|
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe |
ORPHA:1342 |
| Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... |
ORPHA:1801 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Limited knee extension, Epip... |
OMIM:600969 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Hydrocephalus, Camptodactyly of finger, Micrognathia, Bowing of the lo... |
ORPHA:90652 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... |
ORPHA:969 |
| Atelosteogenesis, Type Ii |
|
Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali... |
OMIM:256050 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cleft palate, Talipes equinovarus, Short stature, Hamartoma of tongue, Short ribs, ... |
OMIM:613091 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Platyspondyly, Wormian bones, Shortenin... |
OMIM:601356 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial ap... |
OMIM:274000 |
| Brachydactyly, Type A2 |
|
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... |
OMIM:112600 |
| Ruvalcaba Syndrome |
|
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Narrow chest, Limited elbow... |
OMIM:180870 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the p... |
ORPHA:2470 |
| Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ... |
ORPHA:2831 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... |
ORPHA:166011 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... |
OMIM:151200 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Short stature, Hypoplasia of the radius, Fing... |
OMIM:228930 |
| Diastrophic Dysplasia |
|
Irregular epiphyses, Costal cartilage calcification, Cleft palate, Talipes equinovarus, Short fin... |
OMIM:222600 |
| Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Broad palm, Narrow pelvis bone, Cubitus va... |
ORPHA:79106 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... |
OMIM:113450 |
| Salivary Duct Calculi |
|
Abnormality of the mouth, Parotitis |
OMIM:181010 |
| Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Abnormality of p... |
OMIM:265800 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Beak... |
OMIM:215150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral segmentation and fusion, Abnormal sacrum ... |
ORPHA:2345 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal ga... |
OMIM:617102 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abnormally ossifi... |
ORPHA:1427 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:1795 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Broad toe, Toe synda... |
OMIM:263540 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Achondroplasia |
|
Limited hip extension, Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced inter... |
OMIM:100800 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... |
OMIM:184460 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Flattened femoral head, Pectus carinatum, Short metatarsal, Metaphyseal irregul... |
OMIM:615222 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Intrauterine growth retardation, Adducted thumb, Short philtrum, Hypertelorism, Hearing impairmen... |
OMIM:614257 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... |
OMIM:118651 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... |
OMIM:609655 |
| Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
| Legg-Calvé-Perthes Disease |
|
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation |
ORPHA:2380 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Hypoplastic sacrum, Carpal bone hypoplasia, Hypoplastic pelvis, Cone-shaped epiphy... |
OMIM:304950 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... |
OMIM:300106 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... |
ORPHA:93387 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Short neck, Cubitus valgus, Shield chest, Short metacarpal |
ORPHA:261524 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... |
OMIM:250230 |
| Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... |
OMIM:249710 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Flat capital femoral epiphysis, Irregular vertebral endplates, Tapered finger, Kyphoscoliosis, Di... |
OMIM:612350 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... |
OMIM:157800 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... |
OMIM:182255 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Short metatarsal, Avascu... |
OMIM:190351 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Jejun... |
OMIM:601346 |
| Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Short toe, Platyspondyly, Flared... |
OMIM:607095 |
| Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Hypertelorism, Syntelencephaly, Hydroce... |
OMIM:609637 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Microphthalmia, Median cleft lip and palate, Cleft upper lip, Cyclopia, Hypot... |
OMIM:264480 |
| Brachydactyly Type A7 |
|
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... |
ORPHA:93397 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Craniosynostosis 3 |
|
Hallux valgus, Brachydactyly, Single transverse palmar crease |
OMIM:615314 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
| Trisomy 18 |
|
Cleft palate, Short stature, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus... |
ORPHA:3380 |
| Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebr... |
ORPHA:2347 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Limited elbow extension, Tapered finger |
OMIM:300706 |
| Cooks Syndrome |
|
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Frontometaphyseal Dysplasia |
|
Short metatarsal, Joint contracture of the hand, Progressive bowing of long bones, Camptodactyly ... |
ORPHA:1826 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... |
OMIM:602875 |
| Eng-Strom Syndrome |
|
Pectus excavatum, Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly |
ORPHA:1937 |
| Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Intrauterine growth retardation |
OMIM:306990 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Genu valgum, Short foot, Short metacarpal, Patellar dislocation, Short toe, Coronal... |
OMIM:614078 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Malar flattening, Short toe, Anterior scalloping of vertebral bodies, Single inte... |
OMIM:611717 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Hearing impairment, Micropenis, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Con... |
OMIM:616331 |
| Iniencephaly |
|
Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly, Rocker bottom foot, Rhizom... |
ORPHA:63259 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft palate, Dysplastic corpus callosum, Anterior hypopituitarism, Cleft upper lip, Limb undergr... |
OMIM:601016 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... |
OMIM:609616 |
| Hydrolethalus |
|
Micrognathia, Cleft palate, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum, Microphtha... |
ORPHA:2189 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of ... |
ORPHA:90650 |
| Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... |
ORPHA:56304 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Wt Limb-Blood Syndrome |
|
Micrognathia, Ulnar deviation of thumb, Clinodactyly of the 5th finger, Short thumb, Absent thumb... |
OMIM:194350 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Or... |
OMIM:611638 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abnormality of t... |
ORPHA:2879 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Microphthalmia, Polydactyly, Talipes equinovarus, Cleft upper lip, Anophthalmia, Po... |
OMIM:613885 |
| Tetralogy Of Fallot |
|
Intrauterine growth retardation, Thin vermilion border, Clinodactyly of the 5th finger, Proptosis... |
ORPHA:3303 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis |
ORPHA:71289 |
| Osteopathia Striata With Cranial Sclerosis |
|
Cleft palate, Talipes equinovarus, Short stature, Joint contracture of the hand, Patent ductus ar... |
OMIM:300373 |
| 20Q11.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Adducted thumb, Short philtrum, Hypertelorism, Hearing impairmen... |
ORPHA:444051 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Malar flattening, Short ribs,... |
OMIM:304120 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ce... |
ORPHA:990 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Short stature, Mirror image foot polydactyly, Hypertelorism, S... |
OMIM:119800 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosi... |
ORPHA:2790 |
| Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Pectus excavatum, Tapered finger, Long fingers, Malar flattening, Proximal placement of thumb, Hi... |
OMIM:613458 |
| Arthrogryposis, Distal, Type 3 |
|
Cutaneous finger syndactyly, Distal arthrogryposis, Talipes equinovarus, Camptodactyly of finger,... |
OMIM:114300 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplastic iliac body, Shield chest, Hypoplasia of the femoral head, Cubi... |
OMIM:617396 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... |
OMIM:259610 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Low anterior hairline, Anal atresia, Distichiasis, Sparse hair |
OMIM:227260 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Knee dislocation, Micrognathia, Tibial bowing, Radial bowing, Horiz... |
OMIM:108721 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Micrognathia, High palate, Rocker bottom foot, Talipes equinovarus, Hand clench... |
OMIM:611890 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Proximal placement of thumb, F... |
ORPHA:139471 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Polydactyly, Abnormal thorax morphology, Syndactyly, Upper l... |
ORPHA:294975 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Delayed skeletal maturation, Hyp... |
OMIM:170390 |
| Otopalatodigital Syndrome, Type I |
|
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flattening, Absent fr... |
OMIM:311300 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... |
ORPHA:166016 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Short stature, Bowing of the ... |
ORPHA:85170 |
| Femoral-Facial Syndrome |
|
Cleft palate, Truncus arteriosus, Talipes equinovarus, Short stature, Hypoplastic acetabulae, Mic... |
OMIM:134780 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Optic atrophy, Hearing impairment |
OMIM:258700 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... |
OMIM:613759 |
| 16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Cleft palate, Wide mouth, Talipes equinovarus, Cleft upper lip, Cyclopia, Sensor... |
ORPHA:261236 |
| Microform Holoprosencephaly |
|
Cleft palate, Intrauterine growth retardation, Short philtrum, Solitary median maxillary central ... |
ORPHA:280200 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Abnormality of the pulmonary artery, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
| Keipert Syndrome |
|
Hypertelorism, Thick upper lip vermilion, Abnormality of the pinna, Broad distal phalanx of finge... |
OMIM:301026 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormal intestine morphology, Aplasia/Hypoplasia of the lungs, Morpho... |
ORPHA:1834 |
| Cerebrooculonasal Syndrome |
|
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Long philtrum, Anoph... |
ORPHA:66625 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Malar flattening, Prominent... |
ORPHA:457395 |
| Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Greenberg Dysplasia |
|
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... |
ORPHA:1426 |
| Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Multiple prenata... |
OMIM:610915 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,... |
OMIM:271665 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, External genital hypoplasia, Hypogonadism, Micropenis, Syndactyly, Brachydactyly |
OMIM:615983 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
| Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... |
ORPHA:93322 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Abnormality of ulnar ... |
ORPHA:85198 |
| Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Hypertelorism, Unilateral cleft lip, Brachydactyly, M... |
ORPHA:1919 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Short stature, Pectus carinatum, Hyperconvex vertebral body endplates, Metaphyseal ir... |
OMIM:184255 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:274210 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Micrognathia, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Flexion contracture, Short n... |
OMIM:616549 |
| Multiple Synostoses Syndrome 2 |
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Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... |
OMIM:610017 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Carious teeth, Hip contracture, Short thorax, Short long bone, Microretrognathia, Knee dislocatio... |
OMIM:618363 |
| Mitchell-Riley Syndrome |
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Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Intrauterine growth re... |
OMIM:615710 |
| Mesomelic Dysplasia, Kantaputra Type |
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Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
| Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:337 |
| Acromesomelic Dysplasia 2A |
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Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
| Metaphyseal Chondrodysplasia, Schmid Type |
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Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Femur-Fibula-Ulna Complex |
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Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Disproportionate short stature, Genu varum, Limb undergrowth, Metaphyseal irregularity, Short rib... |
OMIM:602557 |
| Feingold Syndrome Type 2 |
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Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Polydactyly, Postaxial, Type A1 |
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Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Split-Hand/Foot Malformation 2 |
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Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Pelvis-Shoulder Dysplasia |
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Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Short stature, ... |
ORPHA:2839 |
| Aminopterin Syndrome Sine Aminopterin |
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Micrognathia, High palate, Cleft palate, Megalencephaly, Oligodontia, Umbilical hernia, Intrauter... |
OMIM:600325 |
| Kimura Disease |
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Abnormal salivary gland morphology |
ORPHA:482 |
| Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
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Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Short distal ph... |
OMIM:311895 |
| Anaplastic Thyroid Carcinoma |
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Dysphagia, Neoplasm of the lung, Abnormal skeletal muscle morphology, Goiter, Laryngotracheal ste... |
ORPHA:142 |
| Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Malar flattening, ... |
OMIM:251450 |
| Pseudopseudohypoparathyroidism |
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Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Ecto... |
ORPHA:79445 |
| Metachondromatosis |
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Bowing of the long bones, Abnormal joint morphology, Multiple enchondromatosis |
OMIM:156250 |
| Pde4D Haploinsufficiency Syndrome |
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Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor... |
ORPHA:439822 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis |
OMIM:214300 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Hypospadias, Micrognathia, Cleft palate, Microphthalmia, Cyclopia, Low-set, posteriorly rotated e... |
ORPHA:2166 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Nphp3-Related Meckel-Like Syndrome |
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Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Intestinal malrotation, ... |
ORPHA:3032 |
| Acromesomelic Dysplasia 3 |
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Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, D... |
OMIM:609441 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Long thorax, Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology |
ORPHA:1277 |
| Lamb-Shaffer Syndrome |
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Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of the humerus, Hypoplasia of the ulna, Microphthalmia, Phocomelia, Aplasia/Hypoplasi... |
ORPHA:3186 |
| Charlie M Syndrome |
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Micrognathia, Triphalangeal thumb, Short philtrum, Hypertelorism, Thin vermilion border, Macrotia... |
ORPHA:1406 |
| Diastrophic Dysplasia |
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Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... |
ORPHA:628 |
| Leri-Weill Dyschondrosteosis |
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Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... |
OMIM:171480 |
| Multiple Pterygium Syndrome, Escobar Variant |
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Talipes equinovarus, Syndactyly, Dysplastic patella, Micrognathia, Patellar aplasia, Neck pterygi... |
OMIM:265000 |
| Acrodysostosis |
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Spinal canal stenosis, Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Mand... |
ORPHA:950 |
| Lethal Congenital Contracture Syndrome 3 |
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Neonatal death |
OMIM:611369 |
| Desbuquois Dysplasia 2 |
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Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Short phalanx of ... |
OMIM:615777 |
| Greenberg Dysplasia |
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Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary ve... |
OMIM:215140 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypospadias, Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypo... |
OMIM:276820 |
| Vissers-Bodmer Syndrome |
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Holoprosencephaly, Intrauterine growth retardation, Short stature, Tapered finger |
OMIM:619033 |
| Tetramelic Monodactyly |
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Oligodactyly, Split hand |
ORPHA:2564 |
| Metaphyseal Acroscyphodysplasia |
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Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... |
ORPHA:1240 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
| Camptobrachydactyly |
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Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1319 |
| Achondroplasia |
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Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... |
ORPHA:15 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... |
ORPHA:166024 |
| Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
| Acrofacial Dysostosis, Palagonia Type |
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Cutaneous finger syndactyly, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida oc... |
OMIM:601829 |
| Chromosome 15Q13.3 Deletion Syndrome |
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Clinodactyly of the 5th finger, Hypertelorism, Abnormality of the pinna, Brachydactyly |
OMIM:612001 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Osteoporosis, Wormian bones, Brachydactyly, Short distal phalanx of finger, Joint hyperflexibility |
ORPHA:2787 |
| Synostoses, Tarsal, Carpal, And Digital |
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Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:186400 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
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Micrognathia, Radial club hand, Short metatarsal, Preaxial hand polydactyly, Short metacarpal, Br... |
ORPHA:1278 |
| Brachydactyly-Syndactyly, Zhao Type |
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Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... |
ORPHA:93409 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Short stature, Dislocated radial head, Abnormal thorax... |
OMIM:605274 |
| Glycogen Storage Disease Ixa1 |
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Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... |
ORPHA:210122 |
| Weyers Acrofacial Dysostosis |
|
Solitary median maxillary central incisor, Hypotelorism, Conical tooth, Prominent antihelix, Post... |
OMIM:193530 |
| Holoprosencephaly |
|
Abnormal form of the vertebral bodies, Iris coloboma, Hydrocephalus, Aplasia/Hypoplasia of the co... |
ORPHA:2162 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Gordon Syndrome |
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Pectus excavatum, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Clino... |
ORPHA:376 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
| Temtamy Syndrome |
|
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Microphthalmia, ... |
ORPHA:1777 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Pectus carinatum, Small hand, Synostosis of carp... |
ORPHA:3121 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
| Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
| Ulnar Hypoplasia |
|
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... |
OMIM:191440 |
| Sillence Syndrome |
|
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... |
ORPHA:3168 |
| Trisomy 13 |
|
Cleft palate, Abnormal morphology of female internal genitalia, Iris coloboma, Abnormality of pel... |
ORPHA:3378 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Micrognathia, Short middle phalanx of finger, Short 5th toe, Short 2nd toe, Talipe... |
OMIM:211920 |
| Pseudopseudohypoparathyroidism |
|
Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, S... |
OMIM:612463 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Mandibu... |
ORPHA:2511 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Abnormal palate morphology, Conductive hearing impairment, Cleft palate, Toe syndact... |
ORPHA:921 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Apla... |
ORPHA:1908 |
| Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... |
ORPHA:1927 |
| Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Malar flattening, Synostosis of joints, Abnormality of tibia morphology,... |
ORPHA:2496 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Talon cusp, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly,... |
OMIM:605282 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle atrophy, Hand muscle weakness, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, Ulnar deviation of finger, Bowing of the long bones, Mesomelic/rhizomeli... |
ORPHA:2632 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, High palate, Cleft palate, Hand oligodactyly, Talipes equinovarus, Tibial bowing,... |
OMIM:206920 |
| Leri Pleonosteosis |
|
Broad thumb, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodies, Cubitus ... |
ORPHA:2900 |
| Ollier Disease |
|
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... |
ORPHA:296 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Cone-shaped epiphysis, Mandibular prognathia, Short metatarsal, Malar flat... |
OMIM:614613 |
