Simpson-Golabi-Behmel syndrome

Rare disease
Yes

Definition
Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Genetic basis
No
Non-human condition
No
Rare disease
Yes
Listing at source
Listed
Condition name
Simpson-Golabi-Behmel syndrome

  • Simpson-Golabi-Behmel syndrome
  • DGSX
  • Golabi-Rosen syndrome
  • SDYS
  • SGB syndrome
  • SGBS
  • Sara Angers syndrome
  • Simpson-Golabi-Behmel syndrome
  • X-linked dysplasia gigantism syndrome

Severity
Severe

  • Developmental
  • Syndromic

MONDO ID
Parent condition
MONDO:0002254

Related records

Broader conditions (7)

Narrower conditions (2)

Trials (15)