Simpson-Golabi-Behmel Syndrome (SGBS)
Description
Simpson-Golabi-Behmel Syndrome (SGBS) is a rare genetic disorder characterized by overgrowth, distinctive facial features, and a range of other developmental and medical challenges. This condition affects both males and females, with varying severity and symptom combinations. This blog delves into the details of SGBS, providing information on its signs, causes, diagnosis, management, and support resources for individuals and families affected by this syndrome.
Genes Involved
SGBS is primarily caused by mutations in genes involved in cell growth and development. The most frequently affected gene is GPC3, but mutations in RMRP and GLS have also been linked to the syndrome.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of SGBS is crucial for early diagnosis and intervention. Some of the most common features include:
- Overgrowth: Individuals with SGBS often exhibit excessive growth, particularly in the head, hands, and feet.
- Distinctive Facial Features: Common facial characteristics include a broad forehead, prominent eyes, a large nose, a short philtrum (the groove between the nose and upper lip), and a cleft palate.
- Heart Defects: Congenital heart defects are common, such as ventricular septal defects (holes in the heart‘s wall).
- Kidney Abnormalities: Renal abnormalities, such as polycystic kidney disease, can occur.
- Skeletal Abnormalities: Skeletal abnormalities like polydactyly (extra fingers or toes), syndactyly (fused fingers or toes), and hip dysplasia may be present.
- Intellectual Disability: Cognitive impairment can range from mild to severe.
- Other Complications: Other complications may include liver problems, umbilical hernia, and gastrointestinal issues.
Causes
Simpson-Golabi-Behmel Syndrome is a genetic disorder caused by mutations in specific genes. These mutations disrupt the normal functioning of these genes, leading to the development of the characteristic signs and symptoms of the syndrome.
Inheritance/recurrence risk
SGBS is typically inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene from one parent is sufficient to cause the condition. The risk of recurrence for future pregnancies is 50% if one parent carries the mutated gene.
