Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Synonyms: GLOW syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome?
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