2
4
5
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Treacher-Collins syndrome
Definition:
Treacher-Collins syndrome is a hereditary condition that causes facial defects.

Alternative Names:
Mandibulofacial dysostosis

Causes, incidence, and risk factors:

Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease.

A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
Symptoms:
  • Abnormal external ears to almost complete absence of an ear
  • Hearing loss
  • Very small jaw (micrognathia)
  • Extra large mouth
  • Defect in the lower eyelid (coloboma)
  • Scalp hair extends onto cheeks
  • Cleft palate
Signs and tests:
The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:
  • Abnormal eye shape (palpebral fissure, antimongoloid slant)
  • A flat or hypoplastic malar region (cheekbones)
  • Facial clefts
  • Small jaw (micrognathia or hypoplastic mandible)
  • Low-set ears
  • Ear malformation (unusual shape to the ears)
  • Abnormal ear canal
  • Conductive hearing loss
  • Defects in the eye (coloboma that extends into the lower lid)
  • Decreased eyelashes on the lower eyelid
Treatment:
Treatment consists of testing for and treating any hearing loss so a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects.
Support Groups:

Treacher Collins Foundation
800-823-2055 http://www.treachercollinsfnd.orgwww.treachercollinsfnd.org
Expectations (prognosis):
Children with Treacher-Collins should grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.
Complications:
  • Feeding difficulty
  • Speaking difficulty
  • Communication problems
  • Vision problems
  • Cosmetic appearance can cause other people to think the problem is worse than it is
Calling your health care provider:
This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important as there is sometimes a need for a series of operations over years to correct birth defects.
Prevention:
Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.
Review Date: 10/28/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2003 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com