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Features include always present findings: Dry skin, Narrow nasal ridge, Smooth philtrum, and Progeroid facial appearance and others; and common findings: Hyperconvex thumb nails, Short stature, Anteverted nares, and Keratoconjunctivitis sicca and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 5 | Hyperconvex thumb nails, Dry skin, Cutaneous photosensitivity |
RECQL function has not been fully characterized.
RECON progeroid syndrome is associated with mutations in the RECQL gene on chromosome 12.
Genetic testing for RECQL is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features, 29 common features.
No clinical trials have been registered for RECON progeroid syndrome.
2 publications have been identified in PubMed for RECON progeroid syndrome. Research spans Review / Meta-Analysis (100%).
Orren DK (2024). [PMID: 39125869](https://pubmed.ncbi.nlm.nih.gov/39125869/). *Int J Mol Sci*. [Review / Meta-Analysis]
Monnat RJ Jr (2024). [PMID: 38994931](https://pubmed.ncbi.nlm.nih.gov/38994931/). *Cells*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC
Online Mendelian Inheritance in Man
Common questions about RECON progeroid syndrome
Blood and immune system |
3 |
Recurrent infections, Low red blood cell count (anemia), Low platelet count (thrombocytopenia) |
Head and neck | 3 | Round face, Progeroid facial appearance, Microcephaly |
Growth and development | 2 | Short stature, Growth delay |
Bones and joints | 2 | Skeletal muscle atrophy, Joint hypermobility |
Muscles | 1 | Skeletal muscle atrophy |