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Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
Features include: Dermatoglyphic ridges abnormal, Skeletal dysplasia, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Long philtrum and 11 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Dermatoglyphic ridges abnormal, Abnormal dermatoglyphics |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Tel Hashomer camptodactyly syndrome.
1 publication has been identified in PubMed for Tel Hashomer camptodactyly syndrome. Research spans Other (100%).
Nicolau R (2025). [PMID: 40134182](https://pubmed.ncbi.nlm.nih.gov/40134182/). *Int J Rheum Dis*. [Other]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:24 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Tel Hashomer camptodactyly syndrome
Bones and joints
2 |
Skeletal dysplasia, Joint contracture of the hand |
Lab test results | 2 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Abnormal electrical muscle activity (EMG) (emg abnormality) |
Muscles | 1 | Joint contracture of the hand |
Arms and legs | 1 | Joint contracture of the hand |
Heart and blood vessels | 1 | Mitral valve prolapse |