Simpson-Golabi-Behmel syndrome type 2

Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and females usually do not. [Source: Wikipedia ]

Synonyms
Lethal variant of Simpson-Golabi-Behmel syndrome
SGBS2
OrphaNet reference
Simpson-Golabi-Behmel syndrome type 2 
Is A
Simpson-Golabi-Behmel syndrome