" /> Barber-say syndrome - CISMeF





Preferred Label : Barber-say syndrome;

Symbol : BBRSAY;

CISMeF acronym : BBRSAY; BSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertrichosis, atrophic skin, ectropion, and macrostomia; BSS;

Description : Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). Ablepharon-macrostomia syndrome (AMS; 200110) is a similar but apparently distinct disorder, distinguished by the fact that AMS patients have ablepharon or microblepharon rather than ectropion and more severe genital abnormalities (Stevens and Sargent, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of Drosophila TWIST-2 gene (TWIST2, 607556.0005);

Prefixed ID : #209885;

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03/05/2025


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