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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.
Features include very common findings: Brachydactyly, Split hand, Triphalangeal thumb, and Dystrophic toenail and others; and common findings: Abnormal toenail morphology. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 8 | Shortening of all distal phalanges of the toes, Short 5th finger, Shortening of all distal phalanges of the fingers |
Phenotype severity distribution: 7 very common features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Cooks syndrome.
5 publications have been identified in PubMed for Cooks syndrome. Research spans Case Report / Case Series (60%) and Epidemiology / Natural History (40%).
Gellatly D (2025). [PMID: 40322658](https://pubmed.ncbi.nlm.nih.gov/40322658/). *The Canadian veterinary journal = La revue veterinaire canadienne*. [Case Report / Case Series]
Boiu S (2025). [PMID: 39871364](https://pubmed.ncbi.nlm.nih.gov/39871364/). *Pediatric rheumatology online journal*. [Case Report / Case Series]
Esmaeili F (2025). [PMID: 40820390](https://pubmed.ncbi.nlm.nih.gov/40820390/). *Endocrinol Diabetes Metab*. [Epidemiology / Natural History]
Bay JL (2025). [PMID: 40569280](https://pubmed.ncbi.nlm.nih.gov/40569280/). *Health Promot Int*. [Epidemiology / Natural History]
Waerlop F (2024). [PMID: 38616145](https://pubmed.ncbi.nlm.nih.gov/38616145/). *European journal of obstetrics, gynecology, and reproductive biology*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Cooks syndrome
Skin |
2 |
Nail dysplasia, Nail dystrophy |
Head and neck | 1 | High palate |