Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel Syndrome Causes
Simpson-Golabi-Behmel syndrome is inherited in an X-linked recessive pattern. In this inheritance pattern, only males are affected; women are only carriers of the disorder.
Simpson-Golabi-Behmel Syndrome Definition
Simpson-Golabi-Behmel syndrome is a rare genetic congenital disorder marked by accelerated growth and other abnormalities. The syndrome is also known as Sara Agers Syndrome and Bulldog Syndrome. The syndrome somehow resembles another overgrowth syndrome referred as Beckwith- Wiedemann syndrome; another syndrome concerned with insulin-like growth factor 2 (IGF2).
Simpson-Golabi-Behmel Syndrome Diagnosis
Diagnosis of Simpson-Golabi-Behmel syndrome is usually based on the clinical features noticed in the individual. Genetic testing might be necessary to confirm diagnosis in some cases.
Simpson-Golabi-Behmel Syndrome Symptoms and Signs
Symptoms of Simpson-Golabi-Behmel syndrome include: ? Prenatal accelerated growth ? Post natal accelerated growth ? Coarse (?bulldog like?) facial features such as protruding jaw and tongue, overturned nasal tip and widened nasal bridge ? Height is taller than average ? Increased bone age initially ? Abnormalities in the extremities like broad, short hands and feet ? Sometimes additional fingers and toes might be present ? Mental retardation in some cases ? Other abnormalities may be present including: 1 Small bulge in the small intestine known as Meckel diverticulum 2 Umbilical hernia or inguinal hernia
Simpson-Golabi-Behmel Syndrome Treatment
Supportive management and symptomatic treatment are approaches for SGBS. Genetic counseling may also be beneficial to have a better understanding about the condition and repeated risks in future pregnancies. Enlarged tongue might promote speech difficulties and surgery might be an option to improve the condition.