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;
Origin ID : 209885;
UMLS CUI : C1319466;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)