Perlman syndrome is a rare overgrowth syndrome, also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome. It is caused by autosomal recessive mutations in the DIS3L2 gene. The condition is characterized by macrocephaly, unusually large size at birth, enlarged kidneys, renal dysplasia, dysmorphic facial features and an increased risk of Wilms tumor, a childhood kidney cancer. Neonatal mortality is high among affected babies.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Perlman syndrome (Wikipedia)
Lead
nephromegaly, renal dysplasia
Lead [causative-agent-category]
caused by autosomal recessive mutations in the DIS3L2 gene
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2849 Perlman syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q87.3", "Source": "ICD-10"
3. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2849Quote, ORPHA:2849
Point prevalence Class only <1 / 1 000 000
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