Brachydactyly syndrome
Symptom Information:
Symptom ID: | HPO:0001156 | ||
Synonyms: |
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Quality: | |||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal appendicular skeleton morphology(HPO:0011844) Abnormality of limb bone morphology(HPO:0002813) Abnormality of digit(HPO:0011297) Short digit(HPO:0011927) Brachydactyly syndrome(HPO:0001156) MedDRA: |
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Database Frequency: | 180 / 7739 | ||
Resource: |
All diseases associated with this symptom:
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
1p36 deletion syndrome | (Orphanet:1606) |
3C syndrome | (Orphanet:7) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ADAMS-OLIVER SYNDROME 5 | (OMIM:616028) |
AREDYLD syndrome | (Orphanet:1133) |
Aarskog-Scott syndrome | (Orphanet:915) |
Achondroplasia | (Orphanet:15) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocapitofemoral dysplasia | (Orphanet:63446) |
Acrofacial dysostosis, Weyers type | (Orphanet:952) |
Adams-Oliver syndrome | (Orphanet:974) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Anauxetic dysplasia | (Orphanet:93347) |
Atelosteogenesis type I | (Orphanet:1190) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS | (OMIM:610023) |
BRACHYDACTYLY, TYPE A1, C | (OMIM:615072) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRACHYDACTYLY, TYPE E2 | (OMIM:613382) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
Ballard syndrome | (Orphanet:93395) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Brachydactyly - arterial hypertension | (Orphanet:1276) |
Brachydactyly - elbow wrist dysplasia | (Orphanet:1275) |
Brachydactyly type A1 | (Orphanet:93388) |
Brachydactyly type A2 | (Orphanet:93396) |
Brachydactyly type C | (Orphanet:93384) |
Brachydactyly type E | (Orphanet:93387) |
Brachydactyly-long thumb syndrome | (Orphanet:2946) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME | (OMIM:612576) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 4 | (OMIM:614701) |
Cabezas syndrome | (Orphanet:85293) |
Camptobrachydactyly | (Orphanet:1319) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Carpenter syndrome | (Orphanet:65759) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Cleidocranial dysplasia | (Orphanet:1452) |
Combined oxidative phosphorylation defect type 2 | (Orphanet:254920) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Dahlberg-Borer-Newcomer syndrome | (Orphanet:1563) |
Deafness - onychodystrophy | (Orphanet:3231) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Desbuquois syndrome | (Orphanet:1425) |
Distal monosomy 15q | (Orphanet:1596) |
Distal symphalangism | (Orphanet:3248) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Endocrine-cerebro-osteodysplasia syndrome | (Orphanet:199332) |
FEINGOLD SYNDROME 2 | (OMIM:614326) |
FGFR2-related bent bone dysplasia | (Orphanet:313855) |
Fibular aplasia - complex brachydactyly | (Orphanet:2639) |
Fibular aplasia - ectrodactyly | (Orphanet:1118) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Focal dermal hypoplasia | (Orphanet:2092) |
Frontonasal dysplasia | (Orphanet:250) |
GOMBO SYNDROME | (OMIM:233270) |
Genitopatellar syndrome | (Orphanet:85201) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Gorlin syndrome | (Orphanet:377) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES | (OMIM:614684) |
Hall-Riggs syndrome | (Orphanet:2107) |
Heart-hand syndrome type 3 | (Orphanet:1342) |
Heart-hand syndrome, Slovenian type | (Orphanet:168796) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hypochondroplasia | (Orphanet:429) |
Insulin-resistance syndrome type A | (Orphanet:2297) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Isolated plagiocephaly | (Orphanet:35098) |
Jacobsen syndrome | (Orphanet:2308) |
Jeune syndrome | (Orphanet:474) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KERATOCONUS POSTICUS CIRCUMSCRIPTUS | (OMIM:244600) |
Kleefstra syndrome | (Orphanet:261494) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
Leri pleonosteosis | (Orphanet:2900) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
MACS syndrome | (Orphanet:217335) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
Mal de Meleda | (Orphanet:87503) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Metatropic dysplasia | (Orphanet:2635) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Micromelic dwarfism, Fryns type | (Orphanet:2641) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Moebius syndrome | (Orphanet:570) |
Muenke syndrome | (Orphanet:53271) |
Multiple epiphyseal dysplasia type 4 | (Orphanet:93307) |
Multiple epiphyseal dysplasia, Beighton type | (Orphanet:166011) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
Multiple synostoses syndrome | (Orphanet:3237) |
Myhre syndrome | (Orphanet:2588) |
Noonan syndrome | (Orphanet:648) |
Odonto-tricho-ungual-digito-palmar syndrome | (Orphanet:69082) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteocraniostenosis | (Orphanet:2763) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies | (Orphanet:228190) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Pseudoachondroplasia | (Orphanet:750) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudohypoparathyroidism type 1B | (Orphanet:94089) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Pycnodysostosis | (Orphanet:763) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
Roberts syndrome | (Orphanet:3103) |
Roifman syndrome | (Orphanet:353298) |
SANTOS SYNDROME | (OMIM:613005) |
SATOYOSHI SYNDROME | (OMIM:600705) |
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES | (OMIM:615789) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SHORT STATURE-OBESITY SYNDROME | (OMIM:269870) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS | (OMIM:609616) |
SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE | (OMIM:611702) |
SUGARMAN BRACHYDACTYLY | (OMIM:272150) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Schneckenbecken dysplasia | (Orphanet:3144) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Short-rib thoracic dysplasia 10 with or without polydactyly | (OMIM:615630) |
Short-rib thoracic dysplasia 11 with or without polydactyly | (OMIM:615633) |
Short-rib thoracic dysplasia 2 with or without polydactyly | (OMIM:611263) |
Short-rib thoracic dysplasia 3 with or without polydactyly | (OMIM:613091) |
Short-rib thoracic dysplasia 5 with or without polydactyly | (OMIM:614376) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Smith-Magenis syndrome | (Orphanet:819) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
Spondyloepimetaphyseal dysplasia, Pakistani type | (Orphanet:93282) |
Spondyloepiphyseal dysplasia, Cantu type | (Orphanet:163654) |
Spondylometaphyseal dysplasia - cone-rod dystrophy | (Orphanet:85167) |
Spondylometaphyseal dysplasia, A4 type | (Orphanet:168555) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Stern-Lubinsky-Durrie syndrome | (Orphanet:3194) |
Syndactyly type 5 | (Orphanet:93406) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TARSAL-CARPAL COALITION SYNDROME | (OMIM:186570) |
THAI SYMPHALANGISM SYNDROME | (OMIM:608028) |
THANATOPHORIC DYSPLASIA, TYPE II | (OMIM:187601) |
Temtamy preaxial brachydactyly syndrome | (Orphanet:363417) |
Terminal osseous dysplasia - pigmentary defects | (Orphanet:88630) |
Tricho-retino-dento-digital syndrome | (Orphanet:1264) |
Ulnar/fibula ray defect - brachydactyly | (Orphanet:52056) |
WEILL-MARCHESANI SYNDROME 3 | (OMIM:614819) |
Waardenburg syndrome | (Orphanet:3440) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked spondyloepimetaphyseal dysplasia | (Orphanet:93349) |