Simpson-Golabi-Behmel syndrome type 2

Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Also known as: OFD1 Simpson-Golabi-Behmel syndrome, SGBS2, Simpson-Golabi-Behmel syndrome caused by mutation in OFD1, Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive, lethal variant of Simpson-Golabi-Behmel syndrome, Sgbs2, Simpson-Golabi-Behmel syndrome, type 2

0 clinical trials for this condition and its sub-types, 0 tagged with Simpson-Golabi-Behmel syndrome type 2 itself.