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$Title{Oculo-Dento-Digital Dysplasia}
$Subject{Oculo-Dento-Digital Dysplasia Dento-Oculo-Osseous Dysplasia ODD
Syndrome Oculo-Dento-Osseous Dysplasia ODOD Osseous-Oculo-Dento Dysplasia
Amelogenesis Imperfecta Ectodermal Dysplasias Oro-Cranio-Digital Syndrome
Saethre-Chotzen Syndrome}
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

912:
Oculo-Dento-Digital Dysplasia

** IMPORTANT **
It is possible that the main title of the article (Oculo-Dento-Digital
Dysplasia) is not the name you expected.  Please check the SYNONYMS listing to
find the alternate name and disorder subdivisions covered by this article.

Synonyms

     Dento-Oculo-Osseous Dysplasia
     ODD Syndrome
     Oculo-Dento-Osseous Dysplasia
     ODOD
     Osseous-Oculo-Dento Dysplasia

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

     Amelogenesis Imperfecta
     Ectodermal Dysplasias
     Oro-Cranio-Digital Syndrome
     Saethre-Chotzen Syndrome

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.

Oculo-Dento-Digital Dysplasia is a rare disorder that may be inherited as
an autosomal dominant trait or be caused by a new change in the genes that
occurs for no apparent reason (mutation).  Major symptoms of Oculo-Dento-
Digital Dysplasia are webbing of the fourth and fifth fingers, an abnormally
small transparent part of the eye (microcornea), a slender nose with narrow
nostrils, underdevelopment of the outer flaring wall of each nostril (alae),
defective enamel and dry hair that grows slowly.

Symptoms

Oculo-Dento-Digital Dysplasia is a rare disorder characterized by webbing of
the fourth and fifth fingers, an abnormally small transparent front part of
the eye (cornea), a slender nose, underdeveloped outer walls of each
nostril, narrowing of the nostrils, defective enamel of the teeth and dry
hair that grows slowly.

Other symptoms that may be present in some patients with Oculo-Dento-
Digital Dysplasia are:  a thick lower jaw; an abnormally small head;
permanent bending of the fourth and fifth fingers; webbing and/or permanent
bending of the second third and fourth toes; abnormally small teeth;  eyes
that do not look in the same direction (strabismus); a build-up of fluid
pressure in the eyeball (glaucoma); a short, narrow opening between the upper
and lower eyelids; a vertical fold over the inner corner of the eye; atrophy
of the eye; cleft lip and/or palate; and bone abnormalities in the toes and
fifth finger.

It is felt that there may be another form of Oculo-Dento-Digital
Dysplasia in which the eye and skeletal changes are more severe.  There have
only been a few cases of this severe form documented and it is thought they
may have been inherited as an autosomal recessive trait.  The eyes are
smaller than normal, slanted, set wide apart and blindness may occur.
Skeletal abnormalities include overgrowth of the lower jaw, excessive
thickening of bone tissue in the skull, an abnormally wide collarbone, and
calcium deposits in the lobes of the ear.

Other symptoms found in patients with autosomal recessive Oculo-Dento-
Digital Dysplasia are a long narrow nose with underdeveloped outer flaring
walls of the nostrils, irregular teeth with abnormal enamel, and webbing of
the fourth and fifth fingers.

Causes

Oculo-Dento-Digital Dysplasia may be inherited as an autosomal dominant trait
or as a new change in the genes that occurs spontaneously (mutation).  There
has also been an autosomal recessive form of the disorder documented but
there has been very little evidence to support it.

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 for 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

Oculo-Dento-Digital Dysplasia is a very rare disorder that affects males and
females in equal numbers.  There have been approximately eighty-five cases
reported in the medical literature.

The autosomal recessive form of this disorder has only been documented in
three cases.

Related Disorders

Symptoms of the following disorders can be similar to those of Oculo-Dento-
Digital Dysplasia.  Comparisons may be useful for a differential diagnosis:

Amelogenesis Imperfecta is a rare genetic disorder characterized by a
developmental defect of the tooth enamel.  Secondary effects of this disorder
may be early tooth loss, heightened susceptibility to disease of the tissues
surrounding the teeth and increased sensitivity of the teeth to hot and cold.
There are multiple types of this disorder and it is inherited through various
modes of transmission.  (For more information on this disorder, choose
"Amelogenesis Imperfecta" as your search term in the Rare Disease Database).

The Ectodermal Dysplasias are a group of hereditary, nonprogressive
syndromes in which the affected tissue derives primarily from the ectodermal
germ layer.  The skin, it's derivatives, and some other organs are involved.
Patients have abnormal enamel on their teeth or missing teeth, and absent or
unusual hair on their head.  (For more information on this disorder choose
"Ectodermal Dysplasias" as your search term in the Rare Disease Database).

Oro-Cranio-Digital Syndrome is a very rare disorder that is thought to
possibly be inherited as an autosomal recessive trait.  Symptoms of this
disorder may be an abnormally small head, abnormalities of the thumbs and
toes, growth retardation and cleft lip and/or palate.  This disorder affects
females slightly more often than males.

Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an
autosomal dominant trait.  This disorder involves various craniofacial and
skeletal malformations with abnormalities of the skin on the toes and finger.
Short stature, and in some cases, mild to moderate mental retardation may
also occur.  (For more information on this disorder, choose "Saethre-Chotzen
Syndrome" as your search term in the Rare Disease Database).

Therapies:  Standard

Patients with Oculo-Dento-Digital Dysplasia may benefit from surgery to
repair the webbed fingers and bone malformations.

Full crown restorations may be used to correct the defect in the enamel
of the teeth.

The crossed eyes (strabismus) may be corrected by wearing a patch over
the strong eye in order to strengthen the weak eye.  This procedure must be
done at a young age in order to be affective.  Surgery may also be performed
in some cases.

In older people whose strabismus is beyond the age of correction, the
orphan drug Oculinum can be injected around the eye muscles to correct the
crossed eyes.  Injections must be repeated every few months.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  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 genetic disorders in the future.

This disease entry is based upon medical information available through
May 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 Oculo-Dento-Digital Dysplasia, please contact:

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

     National Foundation for Ectodermal Dysplasias
     219 E. Main St.
     Mascoutah, IL  62258
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

     NIH/National Institute of Dental Research
     9000 Rockville Pike
     Bethesda, MD  20892
     [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. 668-9 and 1390-91.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1276-77.