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$Unique_ID{BRK04283}
$Pretitle{}
$Title{Treacher Collins Syndrome}
$Subject{Treacher Collins Syndrome MFDI Mandibulofacial Dysostosis
Franceschetti-Klein Syndrome Nager Acrofacial Dysostosis Goldenhar-Gorlin
Syndrome Oral-Digital-Facial Syndrome Juberg-Hayword Syndrome Hemifacial
Microsomia}
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Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders,
Inc.

647:
Treacher Collins Syndrome

** IMPORTANT **
It is possible that the main title of the article Treacher Collins)
Syndrome is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     MFDI
     Mandibulofacial Dysostosis
     Franceschetti-Klein Syndrome

Information on the following diseases can be found in the Related
Disorders section of this report:

     Nager Acrofacial Dysostosis
     Goldenhar-Gorlin Syndrome
     Oral-Digital-Facial Syndrome
     Juberg-Hayword Syndrome
     Hemifacial Microsomia

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Treacher Collins Syndrome is a rare genetic disorder characterized by
slanted eyes, difficulty swallowing, deformities of the jaw (including
maxilla and mandible), ears and deafness.

Symptoms

Treacher Collins Syndrome is characterized by underdevelopment of the cheek
(malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of
lower eyelids, and a receding chin.  Underdevelopment of the jaw may cause
problems in swallowing or breathing for the newborn, tubes may have to be
inserted to aid the infant in feeding and breathing.  The outer upper area of
the ear (pinna) may be malformed as well as the external hearing canal
(auditory meatus).  The eardrum (tympanic membrane) may be replaced with a
bony plate.  The combination of a longer than normal face with a beaklike
nose, receding chin and acute deafness, characterize the appearance of
patients with Treacher Collins Syndrome.

Causes

Treacher Collins is a rare genetic disorder which may result from a defect on
the long arm of chromosome five.  However, genetic studies are still in the
process of determining the exact location of the genetic defect.  This
syndrome is inherited as an autosomal dominant trait.  (Human traits
including the classic genetic diseases, are the product of the interaction of
two genes for that condition, one received from the father and one from the
mother.  In dominant disorders a single copy of the disease gene (received
from either the mother or father) will be expressed "dominating" the other
normal gene and resulting in appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.)  A positive
family history is found in less than half of new Treacher Collins patients.
Thus, scientists suspect that approximately sixty percent of cases represent
genetic mutations.

Affected Population

Treacher Collins Syndrome is a rare disorder that affects males and females
in equal numbers.

Related Disorders

Symptoms of the following disorders can be similar to those of Treacher
Collins.  Comparisons may be useful for a differential diagnosis:

Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare
hereditary disorder marked by abnormal facial development.  Cleft lip and
palate, defective development of bones of the jaw and arms, and smaller than
normal thumbs, hearing loss, and ear deformities are characteristics of this
disorder.

Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves
unusual facial characteristics.  The facial structure of people with
Goldenhar Syndrome may include partial absence of the upper eyelid or an
unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the
forehead may be sharply prominent, the nostrils may be absent or closed, the
roof of the mouth may be clefted (cleft palate), and there may be abnormal
growth of the jaw.  Paralysis of the eye muscles may occur.  Unusual cysts on
the eyeball, cysts in fatty tissue at the edge of the eye and skin growths
around the ears (skin tags) may also occur.  Malformations of the spinal
column including open spine (spina bifida), fusion of the top of the spine to
the lower edge of the skull, incomplete development of one side of the spinal
column and more than the normal number of vertebrae may also be present.
(For more information on this disorder, choose "Goldenhar" as your search
term in the Rare Disease Database).

Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by
episodic neuromuscular disturbances, split tongue, splits in the jaw, midline
cleft lip, overgrowth of the membrane that supports the tongue(frenulum), a
broad based nose, vertical folds of skin covering the inner angle where the
eyelids meet (epicanthic folds), more than the normal number of fingers
and/or toes, and shorter than normal fingers and/or toes.  (For more
information on this disorder, choose "OFD" as your search term in the Rare
Disease Database).

Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary
disorder characterized by cleft lip and palate, a smaller than normal sized
head, deformities of the thumbs and toes, and growth hormone deficiency
resulting in short stature.

Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000
births.  It can be confused with a Treacher Collins-like syndrome.  However,
it is not genetic.  Although it can cause abnormalities on both sides of the
face, they are always uneven whereas in Treacher Collins Syndrome both sides
of the face appear equally affected.  The facial nerve is frequently
paralyzed in Hemifacial Microsomia.  The variety of features of HFN include:
underdevelopment of the lower jaw, tilting of the face to one side, ear
deformities (microtia), facial nerve weakness in forty percent of patients,
cleft-like notching of the affected corner of the mouth (macrostomia), and
underdevelopment of the cheek and eye on the affected side of the face.
Other common abnormalities include fatty tumors over the eye, abnormalities
of the vertebrae and ribs, cleft lip/palate, and heart and kidney
abnormalities which are very rare.

Therapies:  Standard

Treatment of Treacher Collins Syndrome may include insertion of feeding or
breathing tubes during infancy.  Early speech and hearing evaluations may be
necessary.  Surgery to improve the appearance of the jaw and ears may be
recommended.  Depending on the type of hearing loss the patient has, surgery
or the use of hearing aids may restore hearing.  Speech/language difficulties
may require speech/language therapy.  The surgical treatment of Treacher
Collins children is based on the age of the child.  During infancy, attention
is directed toward the upper airway.  A tracheostomy may be necessary.
During the first year of life, notching of the lower eyelids can be repaired.
In the preschool and early school years, attention is directed toward
correction of slanting eyelids, and flat cheek bones.  Correction of the jaws
and malocclusion is usually done in stages, the final corrections are done in
teenage years, along with orthodontic therapy.  Surgical correction of the
external ear abnormalities may be done prior to school age for minor forms.
If the major portion of the ear is missing, it is best to wait until age six
so that sufficient rib cartilage is available for framework and grafting.
Genetic counseling may be of benefit for patients and their families.  Other
treatment is symptomatic and supportive.

Therapies:  Investigational

Scientists are studying various surgical methods to improve the appearance of
Treacher Collins patients.  One of the most recent procedures developed for
correction of the malformations of the jaw (maxilla and mandible), and eyes
is the Tessier Intergral Procedure.  The desired results may be obtained in
either one or two stages.

Researchers at Johns Hopkins Hospital are trying to deteremine the genes
responsible for craniofacial disorders.  Physicians may contact:  Drs. Amy
Feldman Lewanda or Ethylin Wang Jabs at:  CMSC 10, Johns Hopkins Hospital,
Baltimore, MD, 21205, [phone].

This disease entry is based upon medical information available through
April 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Treacher Collins Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Treacher Collins Foundation
     P.O. Box 683
     Norwich, VT  05055
     [phone]

     National Institute of Child Health & Human Development (NICHHD)
     9000 Rockville Pike
     Bethesda, MD 20892
     [phone]

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     FACES
     National Association for the Craniofacially Handicapped
     P.O. Box 11082
     Chattanooga, TN 37401
     [phone]

     Let's Face It
     Box 711
     Concord, MA  01742
     [phone]

     National Craniofacial Foundation
     3100 Carlisle Street, Suite 215
     Dallas, TX 75204
     1-800-535-3643

     American Society for Deaf Children
     814 Thayer Avenue
     Silver Spring, MD 20910
     [phone] Voice/TTY

     Deafness Research Foundation
     55 East 34th Street
     New York, NY 10016
     [phone]

     Craniofacial Centre Children's Hospital
     300 Longwood Ave.
     Boston, MA  02115
     [phone]

For Genetic Information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp.480.

PSYCHOSOCIAL ADJUSTMENT OF 20 PATIENTS WITH TREACHER COLLINS SYNDROME
BEFORE AND AFTER RECONSTRUCTIVE SURGERY.  E.M. Arndt, et al,; Br J Plast Surg
(November, 1987, issue 40 (6)).  Pp. 605-609.

ANTHROPOMETRIC EVALUATION OF DYSMORPHOLOGY IN CRANIOFACIAL ANOMALIES;
TREACHER COLLINS SYNDROME.  J.C. Kolar, et al.; Am J Phys Anthropol
(December, 1987, issue 74 (4)).  Pp. 441-451.

FAMILIAL TREACHER COLLINS SYNDROME. P.S. Murty, et al.; J Laryndol Otol
(July, 1988, issue 102 (7)).  Pp. 620-622.