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Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Features include: Albinism.
Biomarker and diagnostic research for microcephaly-albinism-digital anomalies syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microcephaly-albinism-digital anomalies syndrome.
387 publications have been identified in PubMed for microcephaly-albinism-digital anomalies syndrome. Kisho has analyzed 105 by research type. Research spans Review / Meta-Analysis (57%), Case Report / Case Series (17%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 60 | 57% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies |
18 |
17% |
Laboratory research | 14 | 13% |
Disease patterns and progression | 9 | 9% |
Testing and diagnosis research | 4 | 4% |
Richert Q (2026). [PMID: 41619932](https://pubmed.ncbi.nlm.nih.gov/41619932/). *Chest*. [Review / Meta-Analysis]
Tkemladze T (2026). [PMID: 41044236](https://pubmed.ncbi.nlm.nih.gov/41044236/). *Eur J Hum Genet*. [Diagnostic / Biomarker]
Tripathi M (2026). [PMID: 36256770](https://pubmed.ncbi.nlm.nih.gov/36256770/). *Unknown Journal*. [Epidemiology / Natural History]
Sakthivel S (2025). [PMID: 41474985](https://pubmed.ncbi.nlm.nih.gov/41474985/). *Stomatologija*. [Epidemiology / Natural History]
Bowe S (2025). [PMID: 40451572](https://pubmed.ncbi.nlm.nih.gov/40451572/). *Presse Med*. [Review / Meta-Analysis]
Sánchez-Camacho A (2025). [PMID: 40406130](https://pubmed.ncbi.nlm.nih.gov/40406130/). *Front Immunol*. [Review / Meta-Analysis]
Wang Z (2025). [PMID: 39969530](https://pubmed.ncbi.nlm.nih.gov/39969530/). *Br J Dermatol*. [Basic Science / Preclinical]
Patel NM (2025). [PMID: 41101800](https://pubmed.ncbi.nlm.nih.gov/41101800/). *Facial Plast Surg Clin North Am*. [Review / Meta-Analysis]
Bothra N (2025). [PMID: 38775226](https://pubmed.ncbi.nlm.nih.gov/38775226/). *Semin Ophthalmol*. [Review / Meta-Analysis]
Mutai H (2025). [PMID: 39755840](https://pubmed.ncbi.nlm.nih.gov/39755840/). *Hum Genet*. [Basic Science / Preclinical]
AI-curated news mentioning microcephaly-albinism-digital anomalies syndrome
Updated Jun 5, 2026
A pilot study explores the dyadic adjustment and quality of life in individuals with albinism, highlighting their shared experiences with loved ones. This research contributes to understanding the psychosocial aspects of living with albinism.
A recent study highlights the unique epidemiological and clinical features of albinism in Europe, providing insights into its management. This research contributes to the understanding of albinism, which affects individuals with varying degrees of pigmentation.