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Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
Biomarker and diagnostic research for Melhem-Fahl syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Melhem-Fahl syndrome.
200 publications have been identified in PubMed for Melhem-Fahl syndrome. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (12%), and Epidemiology / Natural History (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 110 | 61% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Melhem-Fahl syndrome
22 |
12% |
Disease patterns and progression | 18 | 10% |
Patient case studies | 17 | 9% |
Testing and diagnosis research | 7 | 4% |
Other research | 3 | 2% |
Clinical study results | 2 | 1% |
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Uhlenbusch N (2026). [PMID: 41623132](https://pubmed.ncbi.nlm.nih.gov/41623132/). *Liver Int*. [Epidemiology / Natural History]
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Curr Opin Gastroenterol*. [Review / Meta-Analysis]
Beuriat PA (2026). [PMID: 42115454](https://pubmed.ncbi.nlm.nih.gov/42115454/). *Adv Tech Stand Neurosurg*. [Review / Meta-Analysis]