Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome (pronunciation: a-blef-a-ron mak-ro-sto-mia sin-drome) is a rare congenital disorder characterized by malformations of the face, skin, fingers and genitals.
Etymology
The term "Ablepharon macrostomia" is derived from the Greek words "ablepharon" meaning "without eyelids" and "macrostomia" meaning "large mouth". The term "syndrome" is derived from the Greek word "syndromē" meaning "concurrence".
Symptoms
The most common symptoms of Ablepharon macrostomia syndrome include absence of eyelids, abnormally large mouth, small or absent ears, fused fingers and ambiguous genitalia. Other symptoms may include absence of hair, abnormal nails, and loose skin.
Causes
The exact cause of Ablepharon macrostomia syndrome is unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in the TWIST2 gene.
Diagnosis
Diagnosis of Ablepharon macrostomia syndrome is based on the presence of characteristic physical features. Genetic testing may be used to confirm the diagnosis.
Treatment
Treatment of Ablepharon macrostomia syndrome is symptomatic and supportive. This may include surgery to correct facial abnormalities, and ongoing care from a team of specialists.
See also
References
External links
- Medical encyclopedia article on Ablepharon macrostomia syndrome
- Wikipedia's article - Ablepharon macrostomia syndrome
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