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Hunter-McAlpine craniosynostosis

Disease definition

Hunter-McAlpine craniosynostosis is characterised 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).

ORPHA:97340

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.0
  • OMIM: 601379
  • UMLS: C1832408
  • MeSH: C536072
  • GARD: 2754
  • MedDRA: -
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