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Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
Features include: Craniosynostosis, Short stature, Narrow mouth, and Almond-shaped palpebral fissure and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Craniosynostosis |
Growth and development |
Biomarker and diagnostic research for Hunter-McAlpine craniosynostosis has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Hunter-McAlpine craniosynostosis.
2 publications have been identified in PubMed for Hunter-McAlpine craniosynostosis. Research spans Diagnostic / Biomarker (100%).
Sinha S (2025). [PMID: 40087273](https://pubmed.ncbi.nlm.nih.gov/40087273/). *Nature communications*. [Diagnostic / Biomarker]
Trajkova S (2024). [PMID: 38751117](https://pubmed.ncbi.nlm.nih.gov/38751117/). *HGG advances*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hunter-McAlpine craniosynostosis
1
Short stature |
Brain and nerves | 1 | Intellectual disability |