ICD10 code of Smith-Lemli-Opitz Syndrome and ICD9 code

Smith-Lemli-Opitz syndrome (SLOS) is classified under the ICD-10-CM code Q87.1, which covers congenital malformation syndromes predominantly associated with short stature. In the older ICD-9-CM system, Smith-Lemli-Opitz syndrome was coded as 759.89, representing other specified congenital anomalies.

What is the clinical significance of Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome is a rare, autosomal recessive metabolic disorder caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7). This deficiency impairs the body’s ability to synthesize cholesterol, which is essential for proper fetal development and cellular function. Because cholesterol is a critical component of cell membranes and myelin, Smith-Lemli-Opitz syndrome often results in multisystem involvement, affecting the brain, heart, kidneys, and genitalia. Our community at DiseaseMaps.org currently includes 61 individuals living with Smith-Lemli-Opitz syndrome, providing a vital network for families navigating the complexities of this diagnosis.

How is Smith-Lemli-Opitz syndrome diagnosed?

Diagnosis of Smith-Lemli-Opitz syndrome is primarily confirmed through biochemical testing and molecular genetic analysis. Clinicians look for an elevated level of 7-dehydrocholesterol (7-DHC) in the blood, which is a hallmark biomarker of the condition. Genetic testing is then used to identify pathogenic variants in the DHCR7 gene. Because Smith-Lemli-Opitz syndrome presents with a wide spectrum of severity—ranging from mild intellectual disability and minor physical anomalies to lethal forms—early identification via newborn screening or clinical suspicion is crucial for managing long-term health outcomes.

What are the common symptoms of Smith-Lemli-Opitz syndrome?

The clinical presentation of Smith-Lemli-Opitz syndrome is highly variable, but patients often exhibit a distinct constellation of features. Common manifestations include:

• Physical characteristics: Microcephaly (small head size), ptosis, and syndactyly (webbing) of the second and third toes.


• Developmental impact: Varying degrees of intellectual disability, behavioral challenges, and delayed motor milestones.


• Metabolic/Physical needs: Feeding difficulties, gastroesophageal reflux, and congenital heart defects.


• Genitourinary: Hypospadias and cryptorchidism in males.

Is Smith-Lemli-Opitz syndrome hereditary?

Yes, Smith-Lemli-Opitz syndrome is inherited in an autosomal recessive pattern. This means that an affected individual must inherit one pathogenic DHCR7 mutation from each parent. Parents of a child with Smith-Lemli-Opitz syndrome are typically asymptomatic carriers, each having a 25% chance of passing the condition to each of their children. Genetic counseling is highly recommended for families planning future pregnancies to discuss the recurrence risk and available prenatal diagnostic options.

Next steps

• Consult a specialist: Work closely with a clinical geneticist and a metabolic specialist to manage cholesterol levels and monitor developmental progress.


• Join the community: Connect with the 61 members on DiseaseMaps.org to share experiences and coping strategies for managing Smith-Lemli-Opitz syndrome.


• Stay informed: Keep up to date with clinical trials via NIH ClinicalTrials.gov, as research into cholesterol supplementation therapy remains an active area of study.


• Coordinate care: Ensure a multidisciplinary care team is in place, including pediatric cardiology, gastroenterology, and speech/occupational therapy.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH GARD (Genetic and Rare Diseases Information Center): Smith-Lemli-Opitz syndrome overview and clinical resources.


• Orphanet: ORPHA818, Smith-Lemli-Opitz syndrome classification and clinical data.


• OMIM (Online Mendelian Inheritance in Man): Entry #270400, 7-Dehydrocholesterol Reductase Deficiency.


• Smith-Lemli-Opitz Foundation: Resources and support for families affected by cholesterol synthesis disorders.