Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Features include very common findings: Cleft palate, Lacrimation abnormality, Decreased sweating (hypohidrosis), and Global developmental delay and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Cleft palate, Non-midline cleft of the upper lip |
Biomarker and diagnostic research for contractures-ectodermal dysplasia-cleft lip/palate syndrome has been reported in the published literature.
Phenotype severity distribution: 8 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for contractures-ectodermal dysplasia-cleft lip/palate syndrome.
148 publications have been identified in PubMed for contractures-ectodermal dysplasia-cleft lip/palate syndrome. Research spans Review / Meta-Analysis (61%), Epidemiology / Natural History (14%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 90 | 61% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:48 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 |
Global developmental delay, Difficulty with thinking and memory (cognitive impairment) |
Muscles | 2 | Limitation of joint mobility, Joint stiffness present at birth (arthrogryposis multiplex congenita) |
Skin | 1 | Decreased sweating (hypohidrosis) |
Bones and joints | 1 | Limitation of joint mobility |
Disease patterns and progression |
20 |
14% |
Laboratory research | 17 | 11% |
Patient case studies | 13 | 9% |
Testing and diagnosis research | 4 | 3% |
Other research | 2 | 1% |
Clinical study results | 2 | 1% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Kar A (2026). [PMID: 41932709](https://pubmed.ncbi.nlm.nih.gov/41932709/). *BMJ Case Rep*. [Case Report / Case Series]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
He C (2025). [PMID: 40249538](https://pubmed.ncbi.nlm.nih.gov/40249538/). *Aging Clin Exp Res*. [Epidemiology / Natural History]
Brokke KE (2025). [PMID: 40634186](https://pubmed.ncbi.nlm.nih.gov/40634186/). *Br J Anaesth*. [Review / Meta-Analysis]
Martin B (2025). [PMID: 40963452](https://pubmed.ncbi.nlm.nih.gov/40963452/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Jachiet V (2025). [PMID: 40476413](https://pubmed.ncbi.nlm.nih.gov/40476413/). *Rev Prat*. [Review / Meta-Analysis]