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Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.
Features include always present findings: Ectodermal dysplasia; and common findings: Cleft palate, Abnormal pinna morphology, Absent eyelashes, and Dry skin and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 6 | Dry skin, Eczematoid dermatitis, Palmoplantar keratoderma |
Phenotype severity distribution: 1 always present feature, 18 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for pili torti-onychodysplasia syndrome.
18 publications have been identified in PubMed for pili torti-onychodysplasia syndrome. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 35% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Head and neck
2 |
Cleft palate, Cleft lip |
Pregnancy and birth | 1 | Congenital onychodystrophy |
Eyes | 1 | Conjunctival hyperemia |
Disease patterns and progression
4 |
24% |
Laboratory research | 3 | 18% |
Research summaries | 2 | 12% |
Other research | 1 | 6% |
Clinical study results | 1 | 6% |
Alonso-Mtz de Salinas L (2026). [PMID: 41345742](https://pubmed.ncbi.nlm.nih.gov/41345742/). *J Cutan Pathol*. [Review / Meta-Analysis]
El Fid K (2026). [PMID: 42003052](https://pubmed.ncbi.nlm.nih.gov/42003052/). *Pediatr Dermatol*. [Case Report / Case Series]
Despineux C (2025). [PMID: 40472237](https://pubmed.ncbi.nlm.nih.gov/40472237/). *Pediatr Infect Dis J*. [Basic Science / Preclinical]
Sechi A (2025). [PMID: 39731451](https://pubmed.ncbi.nlm.nih.gov/39731451/). *Pediatr Dermatol*. [Case Report / Case Series]
Isonaka R (2025). [PMID: 39805051](https://pubmed.ncbi.nlm.nih.gov/39805051/). *Neurology*. [Epidemiology / Natural History]
Varesio C (2025). [PMID: 41129843](https://pubmed.ncbi.nlm.nih.gov/41129843/). *Eur J Paediatr Neurol*. [Review / Meta-Analysis]
Fabio RA (2025). [PMID: 40278529](https://pubmed.ncbi.nlm.nih.gov/40278529/). *Pediatr Rep*. [Clinical Trial Publication]
Alam M (2025). [PMID: 40351913](https://pubmed.ncbi.nlm.nih.gov/40351913/). *Cureus*. [Case Report / Case Series]
Capaci V (2025). [PMID: 40332224](https://pubmed.ncbi.nlm.nih.gov/40332224/). *Int J Mol Sci*. [Case Report / Case Series]
Nouh AH (2025). [PMID: 39872230](https://pubmed.ncbi.nlm.nih.gov/39872230/). *Clin Cosmet Investig Dermatol*. [Case Report / Case Series]