Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the skeleton
LB79 Syndactyly
H01095 Syndactyly
SDTY2 is also known as Synpolydactyly.
ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.
Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X
Title
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
