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

More general terms

• genetic disease