Weaver syndrome
Findings
No curated finding names Weaver syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Definition from the Mondo Disease Ontology (MONDO:0010193), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
67 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.
- Accelerated skeletal maturationHPOHP:0005616
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- 3 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Hoarse cryHPOHP:0001615
- 3 of 3 reported patients
- Long philtrumHPOHP:0000343
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 55
- Prominent fingertip padsHPOHP:0001212
- 3 of 3 reported patients
- RetrognathiaHPOHP:0000278
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Thin nailHPOHP:0001816
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormally low-pitched voiceHPOHP:0010300
Genes
2 genes
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.
- EZH2HGNC:3527
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SUZ12HGNC:17101
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Weaver syndrome
- Also called
- camptodactyly-overgrowth-unusual facies syndrome