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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

Hunter-McAlpine craniosynostosis

MONDO:0011065Mondo

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Findings

No curated finding names Hunter-McAlpine craniosynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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).

Definition from the Mondo Disease Ontology (MONDO:0011065), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: syndromic craniosynostosis