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

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

Signs & Symptoms This includes fused toes (2-3 syndactyly) and extra fingers or toes (polydactyly). Males with SLOS can have underdeveloped genitals that may resemble female genitals. People with SLOS often experience behavioral problems, sleep problems and mild to severe intellectual disability.

What causes Opitz syndrome?

Opitz syndrome is caused by an inherited, genetic defect. There are two forms of inheritance for Opitz syndrome. One is autosomal dominant, meaning that the gene only has to be passed on from one parent for a child to have the disease.

How long do people with Smith-Lemli-Opitz syndrome live?

The good news is that, if Smith Lemli Opitz syndrome is properly managed and adequate medical care delivered, those with the condition have the potential to have a normal life expectancy. 3 That said, independent living is unlikely due to the severe intellectual disability that often accompanies this syndrome.

How is Smith Lemli Opitz treated?

The most common therapies being studied or applied clinically include dietary cholesterol supplementation and 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (HMG CoA reductase inhibitors, also known as statins). Other supportive therapies are also employed.

How common is Smith-Lemli-Opitz?

Frequency. Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations.

What chromosome does Smith-Lemli-Opitz syndrome affect?

Phenotype-Gene Relationships

Is Smith-Lemli-Opitz treatable?

Medical Care. Currently, no treatment has proven effective long-term for patients with Smith-Lemli-Opitz syndrome (SLOS). Potentially, cholesterol supplementation is a logical treatment because it may be expected to raise plasma and tissue cholesterol levels.

Is there a cure for SLOS?

There is no cure for SLOS, but some symptoms can be addressed. The primary treatment is to supplement the patient’s diet with large amounts of cholesterol, either in the form of purified cholesterol or in the form of food such as egg yolks and cream. This has been shown to improve symptoms.

How do you test for SLOS?

How is SLOS diagnosed? The diagnosis may be suspected when a person has features commonly seen in SLOS. The diagnosis is confirmed by measuring the amount of 7-DHC enzyme in the blood. Testing can also be done by measuring cholesterol values from a blood sample.

Can babies with trisomy 13 survive?

Clinical Course and Life Expectancy It is hard to predict how long a child with Trisomy 13 will live. Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.

What is SLOS in pregnancy?

In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulates because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk.

Can you see SLOS on ultrasound?

Once a prenatal screening test like the QUAD test indicates an increased risk for SLOS, an ultrasound evaluation is helpful both to confirm the gestational age, and also to demonstrate anomalies that often may be seen in affected fetuses. However, a negative ultrasound for anomalies does not rule out SLOS.

What is SLOS pregnancy?

SLOS is inherited as a recessive condition. That means both parents are silent carriers of a DHCR7 gene that is not working. For carrier couples, there is a 1 in 4 (25%) chance in each pregnancy that the baby will get two non-working copies of the gene (one from each parent). This causes SLOS.