SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/782722002
http://purl.bioontology.org/ontology/SNOMEDCT/782722002
Preferred Name

Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome

Definitions
A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.
Synonyms
GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome
GLOW syndrome
GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome
Type http://www.w3.org/2002/07/owl#Class
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