Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
General Information (adopted from Orphanet):
Synonyms, Signs: |
CAMPTODACTYLY, CLINODACTYLY, SYNDACTYLY, AND BIFID TOE SYNDROME Wahab syndrome Synactyly - camptodactyly and clinodactyly of fifth fingers - bifid halluces |
Number of Symptoms | 28 |
OrphanetNr: | 357332 |
OMIM Id: |
615170
|
ICD-10: |
Q87.2 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
(HPO:0004279) | Short palm | 323 / 7739 | ||||
|
(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
|
(HPO:0009778) | Short thumb | 50 / 7739 | ||||
|
(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
|
(HPO:0004242) | Broad carpal bones | 1 / 7739 | ||||
|
(HPO:0001773) | Short foot | 86 / 7739 | ||||
|
(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
(HPO:0001181) | Adducted thumb | 31 / 7739 | ||||
|
(OMIM) | Dysplasia of middle/distal phalangeal bones | 1 / 7739 | ||||
|
(OMIM) | Severe syndactyly | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(OMIM) | Fused fingernails | 2 / 7739 | ||||
|
(OMIM) | Malformed fingernails | 1 / 7739 | ||||
|
(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
|
(OMIM) | Camptodactyly of 5th fingers | 1 / 7739 | ||||
|
(OMIM) | Clinodactyly of 5th fingers | 2 / 7739 | ||||
|
(OMIM) | Synpolydactyly | 2 / 7739 | ||||
|
(OMIM) | Rudimentary terminal phalanx | 1 / 7739 | ||||
|
(OMIM) | Short carpal bones | 1 / 7739 | ||||
|
(OMIM) | Mesoaxial camptodactyly (2nd, 2/3, or 2/3/4 toes) | 1 / 7739 | ||||
|
(OMIM) | Symphalangism of the DIP joint | 1 / 7739 | ||||
|
(OMIM) | Total cutaneous webbing | 1 / 7739 | ||||
|
(OMIM) | Ulnar deviation of 3rd fingers | 1 / 7739 | ||||
|
(OMIM) | Bifid 5th toe | 1 / 7739 | ||||
|
(OMIM) | Ankylosis of tarsometatarsal joint | 1 / 7739 | ||||
|
(OMIM) | 2nd metacarpal exostosis | 1 / 7739 | ||||
|
(OMIM) | Broad metacarpal bones | 2 / 7739 | ||||
|
(OMIM) | Bifid hallux | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Malik et al. (2010) described a 5-generation Pakistani kindred in which 26 members had a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, ulnar deviation of 3rd fingers, syndactyly involving all digits, and ... |