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GENATLAS PHENOTYPE

last update : 21-08-2015

Symbol	BBRSAY
Location	2q37.3
Name	Barber-Say syndrome
Other name(s)	lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis syndrome
Corresponding gene	TWIST2
Main clinical features	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 lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands
Genetic determination	autosomal dominant
Function/system disorder	dermatology
	eye
Type	disease

Remark(s)

mutations leading to alteration in p.Glu75 of TWIST2 alter the DNA-binding activity of TWIST2, leading to both dominant-negative and gain-of-function effects (PMID: 26119818))