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.
MONDO:0003847
hereditary disease
is_a
MONDO:0010731
Simpson-Golabi-Behmel syndrome
is_a
OFD1 Simpson-Golabi-Behmel syndrome
exact
SGBS2
exact
Simpson-Golabi-Behmel syndrome caused by mutation in OFD1
exact
Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive
exact
lethal variant of Simpson-Golabi-Behmel syndrome
exact