Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 21-08-2015

Symbol	ABPMS
Location	2q37.3
Name	ablepharon-macrostomia syndrome
Corresponding gene	TWIST2
Other symbol(s)	AMS
Main clinical features	congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia
Genetic determination	autosomal dominant
Function/system disorder	eye
	digestive tract/liver and annex
	dermatology
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))