What are the possible complications of Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Many possible complications are recognized. Virtually every cell in the body is dependent on cholesterol to maintain normal function; therefore, the cholesterol deficiency in patients with Smith-Lemli-Opitz syndrome can affect every organ.

Those most severely affected with Smith-Lemli-Opitz syndrome are either spontaneously aborted or die in the neonatal period despite maximal therapy.

Many individuals have multiple malformations. Congenital heart disease and brain malformations may be lethal.

Affected individuals who survive may have renal disease, adrenal insufficiency, seizures, failure to thrive, and hepatic dysfunction.


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