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Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Disease definition

Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis (see this term), characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia (see these terms). Additional features include facial features similar to Crouzon disease (see this term), ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

ORPHA:1555

  • Synonym(s):
    • Beare-Stevenson cutis gyrata syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 123790
  • UMLS: C1852406
  • MeSH: -
  • GARD: 332
  • MedDRA: -

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