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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSmith-Lemli-Opitz syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion Smith-Lemli-Opitz syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Smith-Lemli-Opitz syndrome is a complex developmental disorder with pronounced facial features, microcephaly, intellectual deficit and behavioral problems/autism as well as malformations of the heart, lungs, kidneys, gastrointestinal tract and genitals. Most patients have syndactyly, but the symptoms can vary considerably. Slightly affected persons show minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening with profound intellectual deficits and more severe physical abnormalities. Heredity is autosomal recessive. Intrafamilial variability has been observed, although the severity of symptoms in one subject can be used as a guide to the prognosis for siblings.

(Basic diagnostic gene: DHCR7)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1143/


  • Alias: 7-dehydrocholesterol reductase deficiency (DHCR7)
  • Alias: Lethal acrodysgenital syndrome (DHCR7)
  • Alias: Rutledge lethal multiple anomaly syndrome
  • Alias: SLO (DHCR7)
  • Sympt.: Polydactyly, sex reversal, renal hypoplasia, unilobar lung (DHCR7)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined