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Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
Features include: Cleft palate, Microcephaly, Craniosynostosis, and Preauricular pit and 8 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Cleft palate, Microcephaly, Craniosynostosis |
Brain and nerves |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Lowry-MacLean syndrome.
2 publications have been identified in PubMed for Lowry-MacLean syndrome. Research spans Other (50%) and Basic Science / Preclinical (50%).
Taillieu TL (2026). [PMID: 41555469](https://pubmed.ncbi.nlm.nih.gov/41555469/). *J Cannabis Res*. [Other]
Gregory DJ (2024). [PMID: 39730996](https://pubmed.ncbi.nlm.nih.gov/39730996/). *Mol Med*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 8:11 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Lowry-MacLean syndrome
2
Global developmental delay, Intellectual disability |
Heart and blood vessels | 1 | Abnormal heart morphology |
Growth and development | 1 | Intrauterine growth retardation |
Eyes | 1 | Glaucoma |