multiple synostoses syndrome
Findings
No curated finding names multiple synostoses syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Definition from the Mondo Disease Ontology (MONDO:0017923), read 2026-09-29. CC BY 4.0.
Features
10 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.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Finger symphalangismHPOHP:0009700
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Frequent (30% to 79% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Occasional (5% to 29% of cases)
- Facial asymmetryHPOHP:0000324
- Occasional (5% to 29% of cases)
Genes
3 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.
Where it sits
Other names
4 names
Resolves to: multiple synostoses syndrome
- Also called
- deafness-Hermann type symphalangism syndromefacio-audio-symphalangismsymphalangism-brachydactyly syndromeWL syndrome