Brachydactyly syndrome

Symptom Information:

Symptom ID: HPO:0001156
Synonyms:
Quality:
Cross references:
Is a (Direct Parents):
HPO         Short digit
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:
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)