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$Unique_ID{BRK04036}
$Pretitle{}
$Title{Nager Syndrome}
$Subject{Nager Syndrome Nager Acrofacial Dysostosis Syndrome Acrofacial
Dysostosis Nager Type Mandibulofacial Dysostosis AFD Split Hand
Deformity-Mandibulofacial Dysostosis Miller Syndrome Treacher Collins Syndrome
Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayward Syndrome
Hemifacial Microsomia }
$Volume{}
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Copyright (C) 1992, 1993 National Organization for Rare Disorders, Inc.

892:
Nager Syndrome

** IMPORTANT **
It is possible that the main title of the article (Nager 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

     Nager Acrofacial Dysostosis Syndrome
     Acrofacial Dysostosis, Nager Type
     Mandibulofacial Dysostosis
     AFD
     Split Hand Deformity-Mandibulofacial Dysostosis

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

     Miller Syndrome
     Treacher Collins 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.

Nager Syndrome is a rare disorder that may or may not be genetic.  Major
symptoms may include underdevelopment of the cheek and jaw area of the face.
Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or
absence of the lower eyelashes, lack of development of the internal and
external ear with related hearing problems and cleft palate may also occur.
There may be underdevelopment or absence of the thumb, shortened forearms and
poor movement in the elbow.  Breathing and feeding problems may be present in
infants with this syndrome.

Symptoms

Nager Syndrome is characterized by underdevelopment of the bones of the cheek
and jaw area of the face.  The eyes may slant downward and there may also be
an absence of eyelashes.  A smaller than normal jaw, and internal and
external ear deformities may also be present.  Clefting of the soft and hard
palate may occur as well as deformities of the thumbs and arms.  Missing,
overlapping or webbing of the toes may occur.  Clubfeet, hip dislocation and
underdeveloped ribs may occasionally be present.  Some patients may have
heart problems related to the syndrome.  There may be hair growing on the
sides of the face in an elongated sideburn effect.  Feeding, breathing,
hearing and speech problems need to be taken care of as soon as possible in
order to aid in proper development of the child.

This syndrome is very closely related to Miller Syndrome and in some
cases has also been misdiagnosed as Treacher Collins Syndrome.

Causes

The exact cause of Nager Syndrome is not known.  However, scientists believe
that it may be a genetic disorder inherited either through autosomal
recessive or dominant inheritance.

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 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 the 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.

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

Nager Syndrome is a very rare disorder that affects males and females in
equal numbers.  It is apparent at birth and may also be detected prenatally
by ultrasound screening.

Related Disorders

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

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.  There is
a lack of development of the long bones in the arms and legs causing
shortening of those limbs.  There is sometimes clefting of the soft palate or
lip.  (For more information on this disorder, choose "Miller" as your search
term in the Rare Disease Database).

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).

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 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 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 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 Nager 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.  Surgery may be needed on the ears to aid in hearing in
those with ear defects.  There may be a need for multiple plastic surgeries
to correct eye and jaw defects and cleft palate.  Physical therapy often is
necessary to improve use of hands and feet.  Orthopedic surgery may also be
necessary to try and correct deformities of the arms, hands, feet or toes.
Speech therapy may be needed to aid in hearing and language development.

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 individuals 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
     [phone]

This disease entry is based upon medical information available through
January 1993.  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 Nager Syndrome, please contact:

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

     The Foundation for Nager & Miller Syndromes
     721 South Carlisle St
     South Bend, IN 46619
     [phone]

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

     American Cleft Palate Cranial Facial Association
     1218 Granview Ave.
     Pittsburgh, PA 15211
     [phone]
     (800) 24CLEFT

     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 St., Suite 215
     Dallas, TX 75204
     [phone]

     American Society for Deaf Children
     814 Thayer Ave
     Silver Spring, MD 20910
     [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, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 597.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 216-217.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 44-45.

THE NAGER ACROFACIAL DYSOSTOSIS SYNDROME WITH THE TETRALOGY OF FALLOT, E.
Thompson, et al.; J Med Genet, October, 1985, (issue 22 (5)).  Pp. 408-410.

A SIGNIFICANT FEATURE OF NAGER'S SYNDROME:  PALATAL AGENESIS., I.T.
Jackson, et al.; Plast Reconstr Surg, August, 1989, (issue 84 (2)).  Pp. 219-
226.

NAGER ACROFACIAL DYSOSTOSIS:  EVIDENCE FOR APPARENT HETEROGENEITY., D.J.
Goldstein, et al.; Am J Med Genet, July, 1988, (issue 30 (3)).  Pp. 741-746.