Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS), also called Bulldog syndrome or Sara Agers Syndrome, is a rare congenital genetic syndrome with widely variable expression, causing craniofacial and other abnormalities.

It is inherited in an X-linked recessive fashion, meaning that generally only males are affected, but females are carriers.

Presentation
Affected individuals typically have pre- or postnatal overgrowth leading to coarse ("bulldog-like") faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip. They often are quite tall. Intelligence is usually normal, although mental retardation does occur. They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly. Other abnormalities may include pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia.

People with this syndrome may have an increased risk of tumors, such as neuroblastoma or Wilms tumor.

SGBS is somewhat similar to another overgrowth syndrome called Beckwith-Wiedemann syndrome, probably because both syndromes affect insulin-like growth factor 2 (IGF2).