Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Other congenital malformations (Q80-Q89)»Congenital malformation syndromes involving early overgrowth (Q87.3)
Q87.3
Congenital malformation syndromes involving early overgrowth
Related indications (MeSH) (2)
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.