Hunter-McAlpine craniosynostosis

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Hunter-McAlpine craniosynostosis , and Hunter-McAlpine syndrome is a very rare congenital disease with the main features of craniosynostosis , short stature , mental retardation and facial dysmorphia .

The name refers to the first authors of the first description from 1977 by the Canadian pediatricians Alasdair GW Hunter, Phyllis J. McAlpine, Noreen L. Rudd and F. Clarke Fraser.

The disease should not be confused with Hunter's disease , a metabolic disease .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on a partial gene duplication in the long arm of chromosome 5 locus q35-5qter.

Clinical manifestations

Clinical criteria are:

  • Facial abnormalities such as oval face, almond-shaped eyelid slits, drooping eyelids, small nose
  • Microcephaly
  • Mental disability
  • Short stature
  • Craniosynostosis

literature

  • AI Vásquez-Velásquez, HA García-Castillo, MG González-Mercado, IP Dávalos, G. Raca, X. Xu, E. Dwyer, H. Rivera: Duplication 5q and deletion 9p due to at (5; 9) (q34; p23) in 2 cousins ​​with features of Hunter-McAlpine syndrome and hypothyroidism. In: Cytogenetic and genome research. Vol. 132, No. 4, 2011, pp. 233-238, doi: 10.1159 / 000321647 , PMID 21063078 .
  • H. Rivera, AI Vásquez-Velásquez: 5q35 duplication and Hunter-McAlpine syndrome: missing the link. In: American journal of medical genetics. Part A. Vol. 152A, No. 3, March 2010, pp. 802-803, doi: 10.1002 / ajmg.a.33262 , PMID 20186800 .
  • JA Thomas, DK Manchester, KE Prescott, R. Milner, L. McGavran, MM Cohen: Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q. In: American journal of medical genetics. Vol. 62, No. 4, April 1996, pp. 372-375, doi : 10.1002 / (SICI) 1096-8628 (19960424) 62: 4 <372 :: AID-AJMG9> 3.0.CO; 2-T , PMID 8723067 (review).
  • LC Adès, LL Morris, DA Simpson, EA Haan: Hunter-McAlpine syndrome: report of a third family. In: Clinical dysmorphology. Vol. 2, No. 2, April 1993, pp. 123-130, PMID 8281273 .

Individual evidence

  1. ^ A b c Hunter-McAlpine craniosynostosis. In: Orphanet (Rare Disease Database).
  2. ^ AG Hunter, PJ McAlpine, NL Rudd, FC Fraser: A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. In: Journal of medical genetics. Volume 14, Number 6, December 1977, pp. 430-437, PMID 342696 , PMC 1013640 (free full text).
  3. ↑ AG Hunter, B. Dupont, M. McLaughlin, L. Hinton, E. Baker, L. Adès, E. Haan, CE Schwartz: The Hunter-McAlpine syndrome results from duplication 5q35-qter. In: Clinical genetics. Vol. 67, No. 1, January 2005, pp. 53-60, doi: 10.1111 / j.1399-0004.2005.00378.x , PMID 15617549 .

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