Marden-Walker syndrome
Findings
No curated finding names Marden-Walker syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Definition from the Mondo Disease Ontology (MONDO:0009564), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
62 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.
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
Show the remaining 50
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 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.
- PIEZO2HGNC:26270
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Marden-Walker syndrome
- Also called
- Marden Walker Syndrome