Cure My Disease

Don't miss your cure!

 Log in / Sign up

Beare-Stevenson cutis gyrata syndrome

MONDO:0007412

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.

Also known as: Beare-Stevenson cutis gyrata syndrome, BSTVS, Beare Stevenson syndrome, Beare-Stevenson syndrome, cutis gyrata - acanthosis nigricans - craniosynostosis, cutis gyrata syndrome of Beare and Stevenson, cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

40 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Syndromic disease (24) Human disease (14) Craniosynostosis (13) Developmental defect during embryogenesis (7) Skeletal system disorder (4) Bone development disease (2)
Trials to join now! 19 Not yet recruiting 7 Not yet finished but already full! 4 Completed 9 Terminated 1
Sort by