Beare-Stevenson cutis gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01989 Beare-Stevenson syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01989 Beare-Stevenson syndrome