What is the life expectancy of someone with Smith-Lemli-Opitz syndrome?
SLOS is a condition that is variable in its symptoms and life expectancy. Sadly, about one quarter of affected individuals will die in early childhood, whilst others may live into adulthood. There is no cure for the condition, however treatment can help manage some of the symptoms.
How is SLOS treated?
While cholesterol supplementation and statin therapy are the most commonly studied treatments for SLOS, additional therapeutic maneuvers are being explored. These include antioxidants, prenatal cholesterol supplementation, and gene therapy.
How is Smith-Lemli-Opitz syndrome diagnosed?
The diagnosis of SLOS is based on physical findings and either biochemical or genetic testing. Biochemical testing looks for protein levels in the blood. In patients with SLOS, the protein 7-dehydrocholesterol is elevated. Genetic testing looks for changes in a patient’s genes.
What chromosome does Smith-Lemli-Opitz syndrome affect?
Phenotype-Gene Relationships
| Location | Phenotype | Inheritance |
|---|---|---|
| 11q13.4 | Smith-Lemli-Opitz syndrome | AR |
What is the inheritance pattern of Bloom syndrome?
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What is Opitz G syndrome?
Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing.
What is Smith Magenis Syndrome?
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
Is Smith-Lemli-Opitz syndrome dominant or recessive?
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.
Who discovered Smith-Lemli-Opitz syndrome?
Fifty years ago, the Smith–Lemli–Opitz Syndrome (SLOS) was described in three male patients by pediatricians David W Smith, Luc Lemli and John Opitz at the University of Wisconsin, USA, for the first time. It was designed as a clinical description of all patients who had microcephaly and hypogenitalism.
How is Bloom syndrome diagnosed and treated?
Bloom syndrome is diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing . Sometimes, cytogenetic testing, a blood test to look at a person’s chromosomes , is done to look for features characteristic of Bloom syndrome.
Does Bloom syndrome have a cure?
Bloom syndrome is a rare genetic condition that can occur in any population but is more common in people of Ashkenazi Jewish ancestry. Symptoms include short stature, extreme sun sensitivity, and increased cancer risk. Treatment aims at reducing symptoms and health risks. There is currently no cure.
How is Smith-Lemli-Opitz syndrome (SLOS) treated?
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.
What is the clinical characteristics of Smith Lemli Opitz syndrome?
Clinical characteristics. Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.
Does antenatal therapy improve Smith-Lemli-Opitz syndrome clinical expression?
Therefore, antenatal therapy may lead to improvement in Smith-Lemli-Opitz syndrome clinical expression. 3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) have been studied as potential therapy for Smith-Lemli-Opitz syndrome. Statins would be expected to lower 7DHC concentrations.
Do statins reduce 7DHC in Smith-Lemli-Opitz syndrome?
3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) have been studied as potential therapy for Smith-Lemli-Opitz syndrome. Statins would be expected to lower 7DHC concentrations.