Perlman syndrome

Also known as: Renal hamartomatosis, nephroblastomatosis and fetal gigantism

Overgrowth with nephromegaly and early Wilms tumor.

Medical specialty: Nephrology
Subspecialty: Nephrology / Renal oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: DIS3L2

Etiology & mechanism

DIS3L2 variants.

Gene(s) involved (1)

DIS3L2

Symptoms & signs (5)

distinctive faciesmacrosomianephromegalyneurodevelopmental delaywilms tumor

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.