Simpson-Golabi-Behmel syndrome synonyms
What other names are the Simpson-Golabi-Behmel syndrome known by? Synonyms and other terms with which Simpson-Golabi-Behmel syndrome is known.
Simpson-Golabi-Behmel syndrome (SGBS), also known as Simpson-Golabi-Behmel syndrome type 1 (SGBS1), is a rare genetic disorder characterized by various physical and developmental abnormalities. It primarily affects males, although there have been a few reported cases in females.
SGBS is associated with mutations in the GPC3 gene, which plays a crucial role in regulating cell growth and development. These mutations lead to an overgrowth syndrome, causing affected individuals to have distinctive facial features, such as a broad nasal bridge, wide-set eyes, and a large mouth with thick lips. They may also have an enlarged tongue and gums.
Other common features of SGBS include:
- Overgrowth of organs and tissues, resulting in an increased risk of organomegaly (enlarged organs) and tumors
- Intellectual disability or developmental delay
- Cardiac abnormalities, such as congenital heart defects
- Genitourinary anomalies, including hypospadias in males
- Skeletal abnormalities, such as extra fingers or toes (polydactyly) and joint contractures
- Increased susceptibility to respiratory infections
SGBS is often diagnosed based on clinical features and confirmed through genetic testing. Prenatal diagnosis may be possible through chorionic villus sampling or amniocentesis if there is a family history of the syndrome or suspicion based on ultrasound findings.
Management of SGBS involves a multidisciplinary approach to address the various medical, developmental, and psychosocial needs of affected individuals. This may include regular monitoring of organ function, early intervention services for developmental delays, and surgical interventions for specific abnormalities.
It is important for individuals with SGBS to receive ongoing medical care and support to optimize their quality of life. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and the risk of passing on the condition to future generations.
