Ablepharon macrostomia syndrome

Last revised by Andrew Murphy on 30 Nov 2021

Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.

A few of the clinical features of this syndrome are:

  • syndactyly
  • zygomatic hypoplasia 
  • delayed speech 
  • microtia
  • hypoplastic nipples
  • excessive wrinkles
  • genital malformations
  • growth delay

It is an autosomal dominant disorder and associated with heterozygous mutations of the TWIST2 gene.

The current adopted treatment option includes eye drops for corneal clouding, reconstruction surgery and psycho-social support for children.

Possible considerations include

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