isolated congenital digital clubbing
Findings
No curated finding names isolated congenital digital clubbing yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
Definition from the Mondo Disease Ontology (MONDO:0007343), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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.
- ClubbingHPOHP:0001217
- 11 of 11 reported patients
- Abnormality of connective tissueHPOHP:0003549
- Very frequent (80% to 99% of cases)
- Broad fingerHPOHP:0001500
- Frequent (30% to 79% of cases)
- Broad fingertipHPOHP:0011300
- Frequent (30% to 79% of cases)
- Broad nailHPOHP:0001821
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- Broad toeHPO
Show the remaining 2
- Dystrophic fingernailsHPOHP:0008391
- Occasional (5% to 29% of cases)
- Unusual fungal nail infectionHPOHP:0012203
- Occasional (5% to 29% 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.
- HPGDHGNC:5154
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
2 names
Resolves to: isolated congenital digital clubbing
- Also called
- isolated congenital acropachyisolated congenital nail clubbing