What is the role of surgery in the treatment 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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  • Consider repair of congenital heart defects in cases of Smith-Lemli-Opitz syndrome type I.

  • Repair of polydactyly is best performed early.

  • Consider cleft palate repair as well as pyloromyotomy in a timely fashion in cases of pyloric stenosis.

  • Rectal biopsy for evaluation of ganglion cells may be useful when Hirschsprung disease is suspected and surgical management for Hirschsprung disease may be needed.

  • Gastrostomy placement, with or without fundoplication, may be necessary when feeding difficulties or gastrointestinal reflux is present.

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