Mandibulofacial dysostosis is a
craniofacial deformity also known as
Treacher Collins Syndrome/Franceschetti-Klein Syndrome. It is characterized by:
- down-slanting eyes
- notched lower eyelids
- underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
- lower jaw is often small and slanting
- forward hair in the sideburn area
- underdeveloped, malformed and/or prominent ears
Treacher Collins is a single-gene dominant trait, meaning that if you have it, there is a 50% chance of passing it on to your child. However the disease also occurs "spontaneously" in children of unaffected parents as a result of a mutation.
Affected individuals may also have cleft palate, difficulty eating and breathing, misspaced teeth, partial blindness, dry eyes and frequent eye infections, partial deafness, and small or missing thumbs. Mental capacity and lifespan are unaffected. The physical abnormalities can be corrected surgically, and the hearing loss is easily corrected with a hearing aid
Sources:
http://www.faces-cranio.org/Disord/Treacher.htm
http://www.icondata.com/health/pedbase/files/TREACHER.HTM