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Features include: Abnormal dental enamel morphology, Absent eyebrow, Short stature, and Nail dysplasia and 25 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 6 | Nail dysplasia, Dry skin, Atypical scarring of skin |
Head and neck |
No clinical trials have been registered for tricho-oculo-dermo-vertebral syndrome.
200 publications have been identified in PubMed for tricho-oculo-dermo-vertebral syndrome. Kisho has analyzed 102 by research type. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (28%), and Case Report / Case Series (25%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 37 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
5
Microcephaly, Cleft palate, Abnormal facial shape |
Bones and joints | 3 | Kyphoscoliosis, Skeletal muscle atrophy, Joint contracture of the hand |
Muscles | 3 | Skeletal muscle atrophy, Joint contracture of the hand, Joint stiffness present at birth (arthrogryposis multiplex congenita) |
Growth and development | 1 | Short stature |
Hormones | 1 | Diabetes mellitus |
Eyes | 1 | Nuclear cataract |
Arms and legs | 1 | Joint contracture of the hand |
Laboratory research |
29 |
28% |
Patient case studies | 25 | 25% |
Disease patterns and progression | 7 | 7% |
Clinical study results | 2 | 2% |
New treatment approaches | 2 | 2% |
Zhang Z (2026). [PMID: 41046129](https://pubmed.ncbi.nlm.nih.gov/41046129/). *Br J Dermatol*. [Basic Science / Preclinical]
Gupta M (2026). [PMID: 41051394](https://pubmed.ncbi.nlm.nih.gov/41051394/). *Indian Dermatol Online J*. [Epidemiology / Natural History]
Tsatsopoulou A (2026). [PMID: 40316016](https://pubmed.ncbi.nlm.nih.gov/40316016/). *Hellenic J Cardiol*. [Review / Meta-Analysis]
Le Voyer T (2026). [PMID: 41608125](https://pubmed.ncbi.nlm.nih.gov/41608125/). *J Hum Immun*. [Review / Meta-Analysis]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Bowden S (2026). [PMID: 41490055](https://pubmed.ncbi.nlm.nih.gov/41490055/). *PLoS Biol*. [Basic Science / Preclinical]
Yadlapati S (2026). [PMID: 35201722](https://pubmed.ncbi.nlm.nih.gov/35201722/). *Unknown Journal*. [Basic Science / Preclinical]
Gulsun B (2026). [PMID: 41925717](https://pubmed.ncbi.nlm.nih.gov/41925717/). *J Craniofac Surg*. [Case Report / Case Series]
Di Girolamo D (2026). [PMID: 41445194](https://pubmed.ncbi.nlm.nih.gov/41445194/). *Mol Ther*. [Basic Science / Preclinical]
Keehan L (2026). [PMID: 41174928](https://pubmed.ncbi.nlm.nih.gov/41174928/). *Am J Med Genet A*. [Review / Meta-Analysis]