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$Unique_ID{BRK04004}
$Pretitle{}
$Title{Miller Syndrome}
$Subject{Miller Syndrome Postaxial Acrofacial Dysostosis Acrofacial Dysostosis
Postaxial Type Genee-Wiedemann Syndrome Acrofacial Dysostosis Type
Genee-Wiedemann Treacher Collins Syndrome Nager Syndrome Goldenhar-Gorlin
Syndrome Oral-Digital-Facial Syndrome Juberg-Hayward Syndrome Hemifacial
Microsomia }
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
891:
Miller Syndrome
** IMPORTANT **
It is possible that the main title of the article (Miller 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
Postaxial Acrofacial Dysostosis
Acrofacial Dysostosis, Postaxial Type
Genee-Wiedemann Syndrome
Acrofacial Dysostosis, Type Genee-Wiedemann
Information on the following diseases can be found in the Related
Disorders section of this report:
Treacher Collins Syndrome
Nager Syndrome
Goldenhar-Gorlin Syndrome
Oral-Digital-Facial Syndrome
Juberg-Hayward 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.
Miller Syndrome is a very rare genetic disorder. Major symptoms may
include shortening of the upper and lower limbs, cupped ears, lower eyelid
abnormalities (coloboma) and lack of development of the lower jaw.
Symptoms
Miller Syndrome is characterized by a lack of development of the lower jaw
sometimes with clefting of the soft palate or lip. There is a lack of
development of the long bones in the arms and legs causing a shortening of
those limbs. The nose may be very broad at the base.
There may be missing, webbed or incompletely formed fingers or toes.
Downward slanting of the eyelids and incomplete development (coloboma) of the
lower eyelid may result in chronic eye infections. The ears may be cupped
forward and be lower on the head than normal. Some deformities may cause
breathing and swallowing difficulties in the newborn making insertion of
breathing and feeding tubes necessary.
Occasionally, there may be other problems such as heart defects, the
backward flow of stomach or kidney contents, extra nipples, problems with
joints in the arms, legs and hips and hearing loss.
Causes
Miller Syndrome is thought to be caused by autosomal recessive inheritance.
However, the exact mode of transmission is still under investigation. Human
traits, including the classic genetic diseases, are the product of the
interaction of two genes, one received from the father and one from the
mother. In recessive disorders, the condition does not appear unless a
person inherits the same defective gene from the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will not show symptoms. The risk
of transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent. Fifty percent of
their children will be carriers, but healthy as described above. Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.
Affected Population
Miller Syndrome is a rare disorder that affects males slightly more often
than females in the number of cases reported so far.
Related Disorders
Symptoms of the following disorders can be similar to those of Miller
Syndrome. Comparisons may be useful for a differential diagnosis:
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, are characteristic of
people with Treacher Collins Syndrome. (For more information on this
disorder, choose "Treacher-Collins" as your search term in the Rare Disease
Database).
Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare
hereditary disorder marked by unusual facial development. Cleft lip and
palate, defective development of bones in the jaw and arms, smaller than
normal thumbs, hearing loss, and ear deformities are characteristics of this
disorder. (For more information on this disorder, choose "Nager" as your
search term in the Rare Disease Database.)
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
episodes of 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 "Oral-Facial-Digital" 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 then 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 HFM 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 less 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 Miller Syndrome may consist of surgery to insert breathing and
feeding tubes in infants who are unable to breath or eat due to deformities
of the palate or jaw. Tubes may also need to be inserted into the ears.
There may be a need for multiple plastic surgeries to correct eye and jaw
defects. Physical therapy is necessary for aid in walking and using hands.
Surgery and speech therapy is often necessary when cleft palate or lip is
present.
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
patients with craniofacial and other birth defects affecting the head, eyes
and jaw.
The National Institutes of Health (NIH) is sponsoring the Human Genome
Project which is aimed at mapping every gene in the human body and learning
why they sometimes malfunction. It is hoped that this new knowledge will
lead to prevention and treatment of birth defects in the future.
To participate in this study, families with Miller Syndrome should
contact:
Eric A. Wulfsberg, M.D.
Karen Supovitz, M.S.
Division of Human Genetics
University of Maryland School of Medicine
Baltimore, MD 20201-1703
(410) 328-3815
This disease entry is based upon medical information available through
February 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 Miller Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Foundation for Nager & Miller Syndromes
721 South Carlisle ST
South Bend, IN 46619
(219) 289-5611
NIH/National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
The American Cleft Palate Foundation, Inc.
331 Salk Hall
University of Pittsburgh
Pittsburgh, PA 15621
(412) 681-9620
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
(800) 535-3643
American Society for Deaf Children
814 Thayer Ave
Silver Spring, MD 20910
(301) 585-5400
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 1435-1436.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 214-215.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-in-Chief;
Blackwell Scientific Publications, 1990. Pp. 45-46.
MILLER'S SYNDROME. ANAESTHETIC MANAGEMENT OF POSTAXIAL ACROFACIAL
DYSOSTOSIS. Richards, M., Anaesthesia, August, 1987, (issue 42 (8)). Pp.
871-874.
PATHOGENESIS OF CLEFT PALATE IN TREACHER COLLINS, NAGER, AND MILLER
SYNDROMES., Sulik, K.K., et al,; Cleft Palate J, July, 1989, (issue 26 (3)).
Pp. 209-216. discussion 216.
A ADAPTATION OF THE MILLER PATIENT CLASSIFICATION SYSTEM FOR THE
POSTANESTHESIA CARE UNIT AT CHILDREN'S HOSPITAL OF EASTERN ONTARIO., Kay, J.
et al,; J Post Anesth Nurs, August, 1990, (issue 5 (4)). Pp. 239-246.