ISSN 2398-2950      

Craniofacial defect

ffelis
Contributor(s):

Leslie A Lyons

Susan Little

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

Podcast:


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

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Treatment

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Prevention

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Outcomes

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

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)

Can’t find what you’re looking for?

We have an ever growing content library on Vetlexicon so if you ever find we haven't covered something that you need please fill in the form below and let us know!

 
 
 
 

To show you are not a Bot please can you enter the number showing adjacent to this field

 Security code