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Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Features include: Cleft palate, Camptodactyly of finger, Mesomelic arm shortening, and Bowing of the legs and 4 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Cleft palate |
Arms and legs |
Biomarker and diagnostic research for mesomelic dwarfism-cleft palate-camptodactyly syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mesomelic dwarfism-cleft palate-camptodactyly syndrome.
108 publications have been identified in PubMed for mesomelic dwarfism-cleft palate-camptodactyly syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (16%), and Case Report / Case Series (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 70 | 67% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Camptodactyly of finger |
Laboratory research |
17 |
16% |
Patient case studies | 7 | 7% |
Disease patterns and progression | 6 | 6% |
Other research | 2 | 2% |
Testing and diagnosis research | 2 | 2% |
Doğan Arı AB (2026). [PMID: 42230379](https://pubmed.ncbi.nlm.nih.gov/42230379/). *Eur J Pediatr*. [Epidemiology / Natural History]
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]
Beskorovainaya TS (2026). [PMID: 41683999](https://pubmed.ncbi.nlm.nih.gov/41683999/). *Int J Mol Sci*. [Case Report / Case Series]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Kaul A (2025). [PMID: 40915300](https://pubmed.ncbi.nlm.nih.gov/40915300/). *Lancet Rheumatol*. [Review / Meta-Analysis]
Pena C (2025). [PMID: 40146047](https://pubmed.ncbi.nlm.nih.gov/40146047/). *Minerva Med*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Sánchez-Camacho A (2025). [PMID: 40406130](https://pubmed.ncbi.nlm.nih.gov/40406130/). *Front Immunol*. [Review / Meta-Analysis]
Bertoli-Avella AM (2025). [PMID: 40413033](https://pubmed.ncbi.nlm.nih.gov/40413033/). *J Med Genet*. [Basic Science / Preclinical]