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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease
  • 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))