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Facial Difference

Background

Facial disfigurement can have many causes including road accidents, burns, cancer, skin conditions, birthmarks and other congenital anomalies. Amongst congenital causes are a number of specific syndromes which include some form of facial abnormality as a characteristic feature of the condition. Facial disfigurement in varying degree may be a feature of chromosome abnormalities. Additionally, some genetic enzyme deficiency diseases result in facial abnormalities.

Examples of specific syndromes are Sturge-Weber syndrome where the disfigurement is in the form of a port wine stain; hemifacial microsomia ( Goldenhar syndrome ) where there is under development of one side of the face. Cri du Chat syndrome is a chromosome (5p-) abnormality, which includes facial asymmetry and poorly formed ears. In Treacher-Collins syndrome malformations may include cheekbones, chin, jaw and temples, while ears may be malformed or absent.

How is it treated? View How is it treated?

Medical text written November 1991 by Contact a Family. Approved by Dr M Patton, Consultant Clinical Geneticist, St George's Hospital Medical School London and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital. Last updated June 2000 by Professor N Rumsey. Last reviewed April 2005 by Professor N Rumsey, Centre for Appearance and Disfigurement Research, University of the West of England, Bristol, UK.

 

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