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ablepharon-macrostomia syndrome
Epidemiology:
- extremely rare
Genetics:
- may be autosomal recessive
Clinical manifestations:
- absence or severe underdevelopment of the upper & lower eyelids (ablepharon or microblepharon)*
- absence of eyelashes & eyebrows
- an unusually wide, 'fish-like' mouth (macrostomia)
- incompletely developed (rudimentary), low-set ears (pinnae)
- eye anomalies
- sparse, thin hair
- thin, wrinkled skin with excess (redundant) folds
- webbed fingers with limited extension
- malformations of the external genitals
- hypoplastic nipples
- abdominal wall abnormalities
* features are variable
General
genetic disease
References
- Ablepharon-Macrostomia Syndrome
National Organization for Rare Disorders (NORD)
https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1093/viewAbstract