Table of Contents
- Overview
- Symptoms
- Treatment
- Prevention
Mandibulofacial dysostosis
Symptoms
- Outer part of the ears are abnormal or almost completely missing
- Hearing loss
- Very small jaw (
micrognathia ) - Very large mouth
- Defect in the lower eyelid (
coloboma ) - Scalp hair that reaches to the cheeks
Cleft palate
Signs and tests
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
- Abnormal eye shape
- Flat cheekbones
- Clefts in the face
- Small jaw
Low-set ears - Abnormally formed ears
- Abnormal ear canal
Hearing loss - Defects in the eye (coloboma that extends into the lower lid)
- Decreased eyelashes on the lower eyelid
Genetic tests can be done to look for mutations in the TCS1 gene.
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Treacher Treatment
Review Date: 08/11/2009
Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG),
Charter Member of the ABGC, University of Tennessee, Memphis, TN.
Review provided by VeriMed Healthcare Network. Also reviewed by
David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
