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Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome(GLOW)

MedGen UID:
1648360
Concept ID:
C4748924
Disease or Syndrome
Synonyms: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW SYNDROME
SNOMED CT: GLOW syndrome (782722002); GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome (782722002); Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (782722002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): DICER1 (14q32.13)
 
Monarch Initiative: MONDO:0018445
OMIM®: 618272
Orphanet: ORPHA404476

Definition

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. [from SNOMEDCT_US]

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlobal developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

Recent clinical studies

Diagnosis

Thiemann I, Hoppen T, Laur M, Ohlert M, Lobitz S, Schwerk N, Dingemann J, Länger F, Grychtol RM, Nüßlein T
Klin Padiatr 2022 Sep;234(5):311-313. Epub 2022 Feb 3 doi: 10.1055/a-1699-2026. PMID: 35114704

Clinical prediction guides

Klein SD, Martinez-Agosto JA
Microrna 2020;9(1):70-80. doi: 10.2174/2211536608666190624114424. PMID: 31232238Free PMC Article

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