Beare-Stevenson cutis gyrata syndrome (BSCGS)

Genetics

• autosomal dominant
• associated with defects in FGFR2

Clinical manifestations

• furrowed skin disorder of
  • cutis gyrata
  • acanthosis nigricans
• craniosynostosis
• craniofacial dysmorphism
• digital anomalies
• umbilical & anogenital abnormalities
• early death

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/123790