Perlman syndrome
Findings
No curated finding names Perlman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009965), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Everted upper lip vermilionHPOHP:0010803
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Large for gestational ageHPOHP:0001520
- 6 of 7 reported patients
- Abnormal upper lip morphologyHPOHP:0000177
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Open mouthHPOHP:0000194
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Smooth philtrumHPOHP:0000319
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DIS3L2HGNC:28648
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Perlman syndrome
- Also called
- nephroblastomatosis - foetal ascites - macrosomia - Wilms tumournephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndromenephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndromenephroblastomatosis, foetal ascites, macrosomia and Wilms tumourrenal hamartomas, nephroblastomatosis and fetal gigantismrenal hamartomas, nephroblastomatosis and foetal gigantism