Felis ISSN 2398-2950

Craniofacial defect

Synonym(s): Frontonasal dysplasia (FND); Burmese head defect

Contributor(s): Leslie A Lyons, Susan Little

Introduction

  • Cause: inherited autosomal recessive mutation in Aristaless-Like Homeobox 1 (ALX1) (CART1).
  • Signs: agenesis of all derivatives of the medial nasal prominence, lateral duplication of most derivatives of the maxillary process including the canine teeth and whisker fields, telencephalic meningoencephalocele, and secondary ocular degeneration.
  • Diagnosis: physical examination findings.
  • Treatment: none.
  • Prognosis: not compatible with life.
Burmese Head Defect is not related to Midline Defect, a genetic disease which can present head malformation and other abnormalities which appears more common in European lines of Burmese cats.

Pathogenesis

Etiology

  • Congenital developmental disorder.

Predisposing factors

General

  • Breed-associated.

Specific

  • ‘Contemporary’ pedigree lines of Burmese breed and related breeds.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Lyons L A, Erdman C A, Grahn R A et al (2016) Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol 409 (2), 451-458 PubMed
  • Noden D M, Evans H E (1986) Inherited homeotic midfacial malformations in Burmese cats. J Craniofac Genet Dev Biol 2, 249-266 PubMed.
  • Sponenberg D P, Graf-Webster E (1986) Hereditary meningoencephalocele in Burmese cats. J Hered 77 (1), 60 PubMed.

Organisation(s)


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