tarsal-carpal coalition syndrome
MONDO:0008521Mondo
Findings
No curated finding names tarsal-carpal coalition syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.
Definition from the Mondo Disease Ontology (MONDO:0008521), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Tarsal synostosisHPOHP:0008368
- Very frequent (80% to 99% of cases)
- Hearing abnormalityHPOHP:0000364
- 1 of 20 reported patients
- Abnormality of body heightHPOHP:0000002
- 0 of 20 reported patients
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.
- NOGHGNC:7866
- Supportive · Orphanet · Autosomal dominant · 2021