Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Synonyms: Beare-Stevenson cutis gyrata syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis 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). Additional features include facial features similar to Crouzon disease 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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