CHAND syndrome is a rare autosomal recessive ectodermal dysplasia characterized by the triad of ankyloblepharon, sparse and curly hair, and hypoplastic nails. It has been reported that mutations in RIPK4 cause this syndrome. RIPK4, a member of the receptor-interacting protein kinase family, plays a role in the homeostasis of proliferation and differentiation of epidermal keratinocytes.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H02903 CHAND syndrome
