Beare-Stevenson cutis gyrata syndrome
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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0021154
dermis disorder
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015338
syndromic craniosynostosis
is_a
BSTVS
related
Beare Stevenson syndrome
related
Beare-Stevenson cutis gyrata syndrome
exact
cutis gyrata - acanthosis nigricans - craniosynostosis
related
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
related