Ablepharon Macrostomia Syndrome

Definition

Definition of Ablepharon Macrostomia Syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall.

Symptoms

Symptoms of Ablepharon Macrostomia Syndrome
The list of signs and symptoms for Ablepharon Macrostomia Syndrome includes the 5 symptoms listed below:

1. Absent/short eyelids
2. Absent eyebrows
3. Absent eyelashes
4. External ear abnormalities
5. Alopecia

Causes

Causes of Ablepharon Macrostomia Syndrome
The cause of Ablepharon Macrostomia Syndrome is not known, but some of the cases suggest that AMS may be inherited as an autosomal recessive genetic trait.

Complications

Complications of Ablepharon Macrostomia Syndrome
Complications of Ablepharon macrostomia syndrome from the Diseases Database include:

1. Corneal opacity
2. Alopecia
3. Ambiguous genitalia (female genotype)
4. Ambiguous genitalia (male genotype)
5. Macrostomia

Treatment

Treatment of Ablepharon Macrostomia Syndrome
Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.

Tests

Tests of Ablepharon Macrostomia Syndrome
These home medical tests may be relevant to Ablepharon macrostomia syndrome:

1. Home HIV Tests
2. Home Chlamydia Tests
3. Home Hepatitis Tests
4. Home Herpes Tests