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A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
Features include: Mesomelia, Fibular hypoplasia, Short stature, and Hypoplasia of the ulna and 15 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 7 | Broad toe, Radial deviation of finger, Decreased finger mobility |
Growth and development |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Osebold-Remondini syndrome.
2 publications have been identified in PubMed for Osebold-Remondini syndrome. Research spans Case Report / Case Series (100%).
Abdelrazek IM (2024). [PMID: 39441036](https://pubmed.ncbi.nlm.nih.gov/39441036/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Ramakrishnan A (2024). [PMID: 39104441](https://pubmed.ncbi.nlm.nih.gov/39104441/). *JCEM case reports*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Osebold-Remondini syndrome
1 |
Short stature |
Bones and joints | 1 | Abnormality of the vertebral column |
Muscles | 1 | Decreased finger mobility |