has material basis in germline mutation in FGFR2 autosomal dominant disease skin disorder Beare-Stevenson cutis gyrata syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5682 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome https://www.malacards.org/card/beare_stevenson_cutis_gyrata_syndrome OMIM:123790 cutis gyrata syndrome of Beare and Stevenson 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. NCIT:C123813 icd11.foundation:947865461 BSTVS UMLS:C1852406 Orphanet:1555 cutis gyrata - acanthosis nigricans - craniosynostosis DOID:0050660 MONDO:0007412 ICD9:759.89 SCTID:703528008 Beare Stevenson syndrome MEDGEN:377668 Beare-Stevenson syndrome cutis gyrata-acanthosis nigricans-craniosynostosis syndrome GARD:0000332 Beare-Stevenson cutis gyrata syndrome MESH:C565129 multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic craniosynostosis dermis disorder