Wieacker-Wolff syndrome
Findings
No curated finding names Wieacker-Wolff syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0010758), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Congenital foot contracturesHPOHP:0005745
- Very frequent (80% to 99% of cases)
- Distal amyotrophyHPOHP:0003693
- Very frequent (80% to 99% of cases)
Show the remaining 4
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- MicrognathiaHPOHP:0000347
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.
- ZC4H2HGNC:24931
- Definitive · Ambry Genetics · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
18 names
Resolves to: Wieacker-Wolff syndrome
- Also called
- apraxia, oculomotor, with congenital contractures and muscle atrophycontractures of feet, muscle atrophy, and oculomotor apraxiafoot contractures-muscle atrophy-oculomotor apraxia syndromeintellectual disability-developmental delay-contractures syndromeMCSmental retardation, X-linked, syndromic 4mental retardation, X-linked, with congenital contractures and Low fingertip archesMiles-Carpenter syndromeMiles-CARPENTER X-linked mental retardation syndromeMRXS4Wieacker syndromeWieacker Wolff syndromeWieacker-Wolff syndrome, X-linkedWieacker-Wolff syndrome, X-linked recessive