Cayler Cardiofacial Syndrome

Alternative Names

  • Depressor Anguli Oris Muscle, Hypoplasia of
  • Asymmetric Crying Facies
  • ACF
  • Facial Paresis, Partial, Unilateral
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

125520

Mode of Inheritance

Autosomal dominant

Gene Map Locus

22q11

Description

Cayler cardiofacial syndrome is a rare congenital disorder characterised by the appearance of asymmetric crying facies during infancy. In affected infants, one corner of the mouth is pulled downward while crying which causes drooping. Cayler cardiofacial syndrome results from the underdevelopment or incomplete development of a facial muscle associated with frowning (the depressor anguli oris muscle). Patients with Cayler syndrome may also have congenital heart defects, kidney abnormalities, hearing loss, developmental delay, and in some cases, intellectual disability.

Studies of families with members suffering from Cayler cardiofacial syndrome suggest an autosomal dominant mode of inheritance. A deletion of chromosome 22q11.2 has been identified in patients affected with this syndrome, which has been considered as part of the CATCH22 phenotype.

Epidemiology in the Arab World

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Other Reports

Kuwait

Farag et al. (1993) screened 400 institutionalized mentally retarded (IQ less than 50) patients in Kuwait during a four years period from January 1986 to January 1990. Two of the patients were found to be suffering from Cayler cardiofacial syndrome.

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