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syndactyly type 5

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Uniprot Description A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes.
Mondo Term and Equivalent IDs
MONDO:0008516:  syndactyly type 5
GARD:0005089: 
MESH:C538155: 
Orphanet:93406: 
SCTID:719159004: