Brachydactyly
Symptom Information:
Symptom ID: | MedDRA:10072883 | ||||||||||||||
Synonyms: |
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Is a (Whole tree): |
HPO:
MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381) Brachydactyly(MedDRA:10072883) |
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Database Frequency: | 153 / 7739 | ||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
1p36 deletion syndrome | (Orphanet:1606) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
Achondroplasia | (Orphanet:15) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocapitofemoral dysplasia | (Orphanet:63446) |
Anauxetic dysplasia | (Orphanet:93347) |
Atelosteogenesis type I | (Orphanet:1190) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BRACHYDACTYLY, TYPE A3 | (OMIM:112700) |
BRACHYDACTYLY, TYPE D | (OMIM:113200) |
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II | (OMIM:113301) |
BRACHYDACTYLY, TYPE E1 | (OMIM:113300) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
Bardet-Biedl syndrome | (Orphanet:110) |
Brachydactyly - arterial hypertension | (Orphanet:1276) |
Brachydactyly - elbow wrist dysplasia | (Orphanet:1275) |
Brachydactyly - nystagmus - cerebellar ataxia | (Orphanet:1246) |
Brachydactyly type A2 | (Orphanet:93396) |
Brachydactyly type A4 | (Orphanet:93394) |
Brachydactyly type C | (Orphanet:93384) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME | (OMIM:612576) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
CORNELIA DE LANGE SYNDROME 4 | (OMIM:614701) |
Cabezas syndrome | (Orphanet:85293) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Combined oxidative phosphorylation defect type 2 | (Orphanet:254920) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
Dahlberg-Borer-Newcomer syndrome | (Orphanet:1563) |
Deafness - onychodystrophy, autosomal dominant | (Orphanet:79499) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Distal monosomy 15q | (Orphanet:1596) |
Distal symphalangism | (Orphanet:3248) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Endocrine-cerebro-osteodysplasia syndrome | (Orphanet:199332) |
FGFR2-related bent bone dysplasia | (Orphanet:313855) |
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) |
Hand-foot-genital syndrome | (Orphanet:2438) |
Heart-hand syndrome type 3 | (Orphanet:1342) |
Heart-hand syndrome, Slovenian type | (Orphanet:168796) |
Holmes-Gang syndrome | (Orphanet:93970) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hypochondroplasia | (Orphanet:429) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Isolated plagiocephaly | (Orphanet:35098) |
Jacobsen syndrome | (Orphanet:2308) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KERATOCONUS POSTICUS CIRCUMSCRIPTUS | (OMIM:244600) |
Kleefstra syndrome | (Orphanet:261494) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MULTIPLE SYNOSTOSES SYNDROME 1 | (OMIM:186500) |
Mal de Meleda | (Orphanet:87503) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Metatropic dysplasia | (Orphanet:2635) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
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) |
Myhre syndrome | (Orphanet:2588) |
NOONAN SYNDROME 1 | (OMIM:163950) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
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) |
Primordial short stature - microdontia - opalescent and rootless teeth | (Orphanet:46658) |
Pseudoachondroplasia | (Orphanet:750) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Pycnodysostosis | (Orphanet:763) |
ROBERTS SYNDROME | (OMIM:268300) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
Roifman syndrome | (Orphanet:353298) |
SANTOS SYNDROME | (OMIM:613005) |
SATOYOSHI SYNDROME | (OMIM:600705) |
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 1 with or without polydactyly | (OMIM:208500) |
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-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Magenis syndrome | (Orphanet:819) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
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 syndrome | (Orphanet:1777) |
Tricho-retino-dento-digital syndrome | (Orphanet:1264) |
Ulnar/fibula ray defect - brachydactyly | (Orphanet:52056) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
WEILL-MARCHESANI SYNDROME 3 | (OMIM:614819) |
Waardenburg syndrome type 3 | (Orphanet:896) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked spondyloepimetaphyseal dysplasia | (Orphanet:93349) |