Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
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Clinical presentation
A few of the clinical features of this syndrome are:
- syndactyly
- zygomatic hypoplasia
- delayed speech
- microtia
- hypoplastic nipples
- excessive wrinkles
- genital malformations
- growth delay
Pathology
It is an autosomal dominant disorder and associated with heterozygous mutations of the TWIST2 gene.
Treatment and prognosis
The current adopted treatment option includes eye drops for corneal clouding, reconstruction surgery and psycho-social support for children.
Differential diagnosis
Possible considerations include