Multiple choice

Which of the following is a rare autosomal recessive genetic disorder in which skull, skin, fingers, genitals, nipples and abdominal wall appear deformed?

  1. 8p23.1 duplication syndrome

  2. Shawl scrotum syndrome

  3. 3q29 microdeletion syndrome

  4. Ablepharon macrostomia syndrome

  5. 2-hydroxyglutaric aciduria

Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Ablepharon macrostomia syndrome is a rare autosomal recessive genetic disorder. It causes deformity of the skull, skin, fingers, genitals, nipples and abdominal wall.