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
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for DONSON-related microcephaly-short stature-limb abnormalities spectrum.
1 publication has been identified in PubMed for DONSON-related microcephaly-short stature-limb abnormalities spectrum. Research spans Review / Meta-Analysis (100%).
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:34 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about DONSON-related microcephaly-short stature-limb abnormalities spectrum