Cooks syndrome
Findings
No curated finding names Cooks syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Definition from the Mondo Disease Ontology (MONDO:0007134), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Aplastic/hypoplastic toenailHPOHP:0010624
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- Dystrophic fingernailsHPOHP:0008391
- Very frequent (80% to 99% of cases)
- Dystrophic toenailHPOHP:0001810
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Triphalangeal thumbHPOHP:0001199
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Frequent (30% to 79% 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.
- SOX9HGNC:11204
- Limited · ClinGen · Autosomal dominant · 2020
Where it sits
Other names
2 names
Resolves to: Cooks syndrome
- Also called
- anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndromeODP