Opitz Syndrome

Also known as: Smith-Lemli-Opitz syndrome, SLOS, SLO Syndrome, RSH Syndrome.

What is Opitz syndrome?

Opitz syndrome is a genetic disorder that presents with slow growth before and after birth and multiple birth defects.Many babies with this syndrome are stillborn.

What causes Opitz syndrome? 

SLOS is caused by an inherited autosomal recessive gene (inherited from each parent) that reduces the amount of an important enzyme (7- dehydrocholesterol reductase) preventing normal cholesterol metabolism. The severity of the disorder can vary between affected babies even in the same family.

What are the symptoms of Opitz syndrome?

Slow growth, a small head, mental retardation, extra fingers and toes, second and third toes stuck together, cleft palate, underdeveloped external genitalia in boys are typical features however features others include drooping eyes, eye face and ear abnormalities, abnormal gums and other different facial abnormalities, and heart defects. Other problems can include poor muscle tone (hypotonia), seizures, bowel obstruction, narrowing of the stomach outlet (pyloric stenosis) and sensitivity to light (photosensitivity).

What are Opitz syndrome care options?

There is no cure for Opitz syndrome. Particular symptoms and complications are treated individually as they arise.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/12/2018 2:14:13 PM

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