Santos syndrome is a novel syndrome characterized by fibular agenesis/hypoplasia, clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause this syndrome. The WNT7A protein induces the local expression of LMX-1B, which is responsible for the development of dorsal structures. WNT7A also plays a role in the maintenance of SHH expression in zone of polarizing activity.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02905 Santos syndrome
Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA
Title
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
