Definition

What is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur.

How common is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome is extremely common. Please discuss with your doctor for further information.

Symptoms

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

The common symptoms of Smith-Lemli-Opitz syndrome are:

  • Developmental delays
  • Psychomotor retardation
  • Mental retardation
  • Musculoskeletal deformities to include extra fingers or toes or a fused finger or toes
  • Cleft palate
  • Underdeveloped external genitalis, only in males
  • Ptosis of the eyes
  • Wrinkles of the skin of the upper and lower eyelids
  • Small jaw
  • Large ears
  • Vision problems in the form of cataracts
  • Neurological problems to include seizures
  • Hypotonia
  • Bowel obstruction
  • Photosensitivity

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Smith-Lemli-Opitz syndrome?

The root cause of Smith-Lemli-Opitz syndrome is mutation of the DHCR7 gene which results in deficiency of 7-dehydrocholesterol reductase enzyme.

The function of this enzyme is to facilitate metabolism of cholesterol.

Smith-Lemli-Opitz syndrome follows an autosomal recessive pattern meaning that two copies of the faulty gene are required from each parent for development of Smith-Lemli-Opitz syndrome.

In case if an individual receives only one defective gene then he or she will be a carrier of the disease and will not show any symptoms whatsoever of Smith-Lemli-Opitz syndrome.

Risk factors

What increases my risk for Smith-Lemli-Opitz syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Smith-Lemli-Opitz syndrome diagnosed?

To diagnose Smith-Lemli-Opitz syndrome, the physician will first take a detailed history of the patient to include a family history to determine whether there are any other members in the family who have similar symptoms.

When a genetic condition like Smith-Lemli-Opitz syndrome is suspected, an enzyme assay will be done which will clearly show deficiency 7-dehydrocholesterol reductase enzyme.

A genetic study may also be done to see if there is a mutation of the DHCR7 gene.

How is Smith-Lemli-Opitz syndrome treated?

There is no specific treatment for Smith-Lemli-Opitz syndrome and treatment is mainly aimed at improving symptoms and correcting any defects that may be arising out of this disorder.

The patient will be evaluated closely by a team of specialist spanning almost all the specialties. They will monitor the patient for cardiac, ocular, neurological, neuromuscular, gastrointestinal and genitourinary defects and formulate a treatment plan accordingly.

Surgery may be recommended for correction of cleft palate or fusing of the toes and fingers. Certain cardiac defects may also be corrected with surgery. The genital abnormality in males with Smith-Lemli-Opitz syndrome also requires surgery for correction.

In some cases cholesterol supplementation may be recommended to improve the growth as well as the overall condition of the patients.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Smith-Lemli-Opitz syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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