Brachydactyly

Symptom Information:

Symptom ID: MedDRA:10072883
Synonyms:
Brachydactyly [OMIM:Brachydactyly]
Brachydactyly (1 patient) [OMIM:Brachydactyly (1 patient)]
Brachydactyly (2nd-5th fingers) [OMIM:Brachydactyly (2nd-5th fingers)]
Brachydactyly (2nd-5th toes) [OMIM:Brachydactyly (2nd-5th toes)]
Brachydactyly (60%) [OMIM:Brachydactyly (60%)]
Brachydactyly (81%) [OMIM:Brachydactyly (81%)]
Brachydactyly (91%) [OMIM:Brachydactyly (91%)]
Brachydactyly (female) [OMIM:Brachydactyly (female)]
Brachydactyly (in 1 family) [OMIM:Brachydactyly (in 1 family)]
Brachydactyly (in one family) [OMIM:Brachydactyly (in one family)]
Brachydactyly (in some patients) [OMIM:Brachydactyly (in some patients)]
Brachydactyly (males) [OMIM:Brachydactyly (males)]
Brachydactyly (more severe than in hands) [OMIM:Brachydactyly (more severe than in hands)]
Brachydactyly (one short metacarpal and metatarsal) [OMIM:Brachydactyly (one short metacarpal and metatarsal)]
Quality:
Cross references:
OMIM: "Brachydactyly" [OMIM:Brachydactyly]
OMIM: "Brachydactyly (1 patient)" [OMIM:Brachydactyly (1 patient)]
OMIM: "Brachydactyly (2nd-5th fingers)" [OMIM:Brachydactyly (2nd-5th fingers)]
OMIM: "Brachydactyly (2nd-5th toes)" [OMIM:Brachydactyly (2nd-5th toes)]
OMIM: "Brachydactyly (60%)" [OMIM:Brachydactyly (60%)]
OMIM: "Brachydactyly (81%)" [OMIM:Brachydactyly (81%)]
OMIM: "Brachydactyly (91%)" [OMIM:Brachydactyly (91%)]
OMIM: "Brachydactyly (female)" [OMIM:Brachydactyly (female)]
OMIM: "Brachydactyly (in 1 family)" [OMIM:Brachydactyly (in 1 family)]
OMIM: "Brachydactyly (in one family)" [OMIM:Brachydactyly (in one family)]
OMIM: "Brachydactyly (in some patients)" [OMIM:Brachydactyly (in some patients)]
OMIM: "Brachydactyly (males)" [OMIM:Brachydactyly (males)]
OMIM: "Brachydactyly (more severe than in hands)" [OMIM:Brachydactyly (more severe than in hands)]
OMIM: "Brachydactyly (one short metacarpal and metatarsal)" [OMIM:Brachydactyly (one short metacarpal and metatarsal)]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
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)
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)