Smith-Lemli-Opitz Syndrome Questions & Answers

Updated: Aug 09, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Questions & Answers

Overview

What is Smith-Lemli-Opitz syndrome (SLOS)?

What are the signs and symptoms of Smith-Lemli-Opitz syndrome (SLOS)?

How is Smith-Lemli-Opitz syndrome (SLOS) diagnosed?

What are the treatment options for Smith-Lemli-Opitz syndrome (SLOS)?

What is the pathophysiology of Smith-Lemli-Opitz syndrome (SLOS)?

What is the US prevalence of Smith-Lemli-Opitz syndrome (SLOS)?

What is the global prevalence of Smith-Lemli-Opitz syndrome (SLOS)?

What is the mortality and morbidity associated with Smith-Lemli-Opitz syndrome (SLOS)?

What are the sexual predilections of Smith-Lemli-Opitz syndrome (SLOS)?

At what age does Smith-Lemli-Opitz syndrome (SLOS) typically present?

Presentation

Which clinical history findings are characteristic of Smith-Lemli-Opitz syndrome (SLOS)?

Which physical findings are characteristic of Smith-Lemli-Opitz syndrome (SLOS)?

What causes Smith-Lemli-Opitz syndrome (SLOS)?

DDX

Which conditions are included in the differential diagnoses of Smith-Lemli-Opitz syndrome (SLOS)?

What are the differential diagnoses for Smith-Lemli-Opitz Syndrome?

Workup

How is Smith-Lemli-Opitz syndrome (SLOS) diagnosed prenatally?

How is Smith-Lemli-Opitz syndrome (SLOS) diagnosed postnatally?

What is the role of imaging studies in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

What is the role of developmental testing in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

What is the role of slit lamp exam in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

What is the role of cardiac testing in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

How is hearing loss assessed in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

How is the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) confirmed in atypical cases?

When is rectal biopsy indicated in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

Which histologic findings are characteristic of Smith-Lemli-Opitz syndrome (SLOS)?

Treatment

How is Smith-Lemli-Opitz syndrome (SLOS) treated?

What is the role of surgery in the treatment of Smith-Lemli-Opitz syndrome (SLOS)?

Which specialist consultations are beneficial to patients with Smith-Lemli-Opitz syndrome (SLOS)?

Which dietary modifications are used in the treatment of Smith-Lemli-Opitz syndrome (SLOS)?

Follow-up

What is included in the long-term care of Smith-Lemli-Opitz syndrome (SLOS)?

How is Smith-Lemli-Opitz syndrome (SLOS) type II treated?

Which medications are used in the treatment of Smith-Lemli-Opitz syndrome (SLOS)?

When is patient transfer indicated for the treatment of Smith-Lemli-Opitz syndrome (SLOS)?

What is included in patient education about Smith-Lemli-Opitz syndrome (SLOS)?

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

What is the prognosis of Smith-Lemli-Opitz syndrome (SLOS)?

Where are patient education resources about Smith-Lemli-Opitz syndrome (SLOS) found?