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$Unique_ID{BRK04074}
$Pretitle{}
$Title{Oto-Palato-Digital Syndrome Type I and II}
$Subject{Oto-Palato-Digital Syndrome Type I and II Andre Syndrome
Cranioorodigital Syndrome Digito-oto-palatal Syndrome Faciopalatoosseous
Syndrome FPO OPD Syndrome OPD II Syndrome Otopalatodigital Syndrome
Palato-oto-digital Syndrome Taybi Syndrome Oto-Palato-Digital Syndrome Type I
Digito-oto-palatal Syndrome Palato-oto-digital Syndrome OPD Syndrome Taybi
Syndrome Oto-Palato-Digital Syndrome Type II Digito-oto-palatal Syndrome
Palato-oto-digital Syndrome Cranioorodigital Syndrome Otopalatodigital
Syndrome OPD II Syndrome Faciopalatoosseous Syndrome FPO Andre Syndrome
Craniometaphyseal Dysplasia Frontometaphyseal Dysplasia Larsen Syndrome
Oro-Facial-Digital Syndrome Osteopetrosis}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

878:
Oto-Palato-Digital Syndrome Type I and II

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

Synonyms

     Andre Syndrome
     Cranioorodigital Syndrome
     Digito-oto-palatal Syndrome
     Faciopalatoosseous Syndrome
     FPO
     OPD Syndrome
     OPD II Syndrome
     Otopalatodigital Syndrome
     Palato-oto-digital Syndrome
     Taybi Syndrome

Disorder Subdivisions:

     Oto-Palato-Digital Syndrome Type I (Digito-oto-palatal Syndrome, Palato-
     oto-digital Syndrome, OPD Syndrome, Taybi Syndrome)
     Oto-Palato-Digital Syndrome Type II (Digito-oto-palatal Syndrome, Palato-
     oto-digital Syndrome, Cranioorodigital Syndrome, Otopalatodigital Syndrome,
     OPD II Syndrome, Faciopalatoosseous Syndrome, FPO, Andre Syndrome)

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

     Craniometaphyseal Dysplasia
     Frontometaphyseal Dysplasia
     Larsen Syndrome
     Oro-Facial-Digital Syndrome
     Osteopetrosis

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.

Oto-Palato-Digital Syndrome Type I and II are rare genetic disorders in
which complete expression of the disease shows up only in males.  Females may
be mildly affected with some of the symptoms.  Type I OPD is inherited
through an X-linked recessive trait with variable expression in females while
Type II OPD is inherited through an X-linked semi-dominant trait (see section
on causes).

OPD Type I is typically a milder disorder with fewer symptoms.  Some of
the characteristics of both disorders may be:  cleft palate, a downward slant
of the opening between the upper and lower eyelids, hearing loss, and short
fingers and toes.

Symptoms

Patients with Oto-Palato-Digital Syndrome Type I typically have an incomplete
closure of the roof of the mouth (cleft palate), a downward slant of the
opening between the upper and lower eyelids, hearing loss due to a defect of
the middle ear (conductive hearing loss), and abnormal shortness of the
fingers and toes.  Other symptoms found in some patients with OPD I may be:
short, broad thumbs and great toes; wide spaces between the toes; one or more
fingers bent to the side; two or more digits united (syndactyly); short
fingernails; dislocation of the head of the radius (one of the bones of the
forearm); a broad bridge of the nose; mild dwarfism; underdeveloped bones of
the face; and/or slow speech development.  Females, who are carriers of the
disorder, may have an overhanging brow, a depressed nasal bridge, a wide
space between the eyes, and a flat midface.  The symptoms expressed in
females vary and are fewer.  Females do not have the full expression of this
disorder.

Oto-Palato-Digital Syndrome Type II typically has more symptoms than type
I.  Major characteristics in males with this disorder may be a small head,
broad forehead, flat bridge of the nose, wide space between the eyes, small
mouth, cleft palate, downward slant of the opening between the upper and
lower eyelids, small mouth, small jaw, fingers that are bent and overlap,
short fingers and toes, curved long bones of the forearms and legs and
occasionally mental retardation.  Females, who are carriers for OPD II, may
have mild symptoms such as an arched palate in the mouth, broad face, low-set
ears, split uvula (the fleshy lobe in the middle of the back border of the
soft palate), fingers bent to the side, short stature, and a downward slant
of the opening between the upper and lower eyelids.  Females do not have the
full expression of this disorder.

Causes

Oto-Palato-Digital Syndrome Type I is inherited through an X-linked recessive
trait with variable expression in females.  Females do not have all of the
typical symptoms of the disorder.

Oto-Palato-Digital Syndrome Type II is inherited through an X-linked
semi-dominant trait.  Females with OPD II may be mildly affected.

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.

X-linked recessive disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore, in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males only have one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.

Affected Population

Oto-Palato-Digital Syndrome I and II affects males only.  Females may have
some of the symptoms but there have been no reported cases of a female having
all of the typical characteristics of this disorder.

There have been approximately thirty cases of OPD I reported in the
medical literature and nine cases of OPD II.

Related Disorders

Symptoms of the following disorders can be similar to those of Oto-Palato-
Digital Syndrome Type I and II.  Comparisons may be useful for a differential
diagnosis:

Craniometaphyseal Dysplasia is a rare genetic disorder that is
characterized by head and facial abnormalities, hearing loss and bone
deformities of the legs.  The nose is abnormally small with narrow nasal
passages and the eyes are widely spaced and bulging.  The limbs may be
affected by a hardening or broadening of the shaft of the long bones close to
the growth center.  Craniometaphyseal Dysplasia is thought to be inherited as
an autosomal dominant trait, but may also be inherited as a recessive genetic
trait.  (For more information on this disorder, choose "Craniometaphyseal" as
your search term in the Rare Disease Database).

Frontometaphyseal Dysplasia is a rare genetic disorder characterized by
coarse facial features that include a wide nasal bridge, widely spaced eyes,
overgrowth of the bone over the eyes, a small jawbone and incomplete
development of the sinuses.  Multiple deformities of the teeth and bones may
also be present.  Occasionally mental retardation may occur.

Larsen Syndrome is a multi-system genetic disorder that is present at
birth.  It is characterized by multiple bone dislocations and abnormalities,
an extremely high arch of the foot, non-tapering cylindrically shaped
fingers, and an unusual facial appearance.  In some cases short stature,
heart problems, cleft palate or lips, deafness and/or mental retardation may
occur.  This disorder is inherited through an autosomal dominant or recessive
trait.  (For more information on this disorder, choose "Larsen" as your
search term in the Rare Disease Database).

Oro-Facial-Digital Syndrome is a rare genetic disorder in which there
have been four types identified.  Symptoms common to all types include
episodes of neuromuscular disturbances, split tongue, splits in the jaw,
midline cleft lip, overgrowth of the membrane that supports the tongue, a
broad based nose, vertical folds of the skin covering the inner angle where
the eyelids meet (epicanthic folds), more than the normal number of fingers
and/or toes, shorter than normal fingers and/or toes, and more than the
normal number of divisions between skull sections.  (For more information
on this disorder, choose "Oro-Facial-Digital" as your search term in the Rare
Disease Database).

Osteopetrosis is a rare genetic bone disorder inherited through an
autosomal dominant or autosomal recessive trait.  Initial symptoms of the
dominant form may include bone fragility leading to easy fractures and
unusual dental problems.  Bone pain may occur in the spine, and cranial
nerves may be affected.  Some vision defects or facial palsy may also be
symptomatic of the dominant form of Osteopetrosis.  (For more information on
this disorder choose "Osteopetrosis" as your search term in the Rare Disease
Database).

Therapies:  Standard

Patients with cleft palate require the coordination efforts of a team of
specialists.  Pediatricians, dental specialists, surgeons, speech
pathologists and psychologists all must systematically and comprehensively
plan the treatment and rehabilitation.  The palate may be repaired surgically
or covered by an artificial device that closes or blocks the opening.  Speech
and language development need to be assisted by a speech pathologist during
the preschool years.

Treatment of hearing loss in Oto-Palato-Digital Syndrome has been limited
due to the severity of deformities.  Some patients may benefit from surgical
repair.

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
January 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 Oto-Palato-Digital Syndrome, please contact:

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

     NIH/National Institutes of Child Health and Human Development
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     National Craniofacial Foundation
     3100 Carlisle Street, Suite 215
     Dallas, TX  75204
     [phone]

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

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

     National Foundation for Facial Reconstruction
     550 First Avenue
     New York, NY  11016
     [phone]

     National Cleft Palate Association
     1218 Grandview Ave.
     Pittsburgh, PA  15211
     1-800-24CLEFT
     1-800-23CLEFT

     National Hearing Association
     P.O. Box 8897
     Metairie, LA  70011
     (504) 888-HEAR

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. 1582 and 1702.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 232-234.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1340-1342.

TEMPORAL BONE FINDINGS IN A CASE OF OTOPALATODIGITAL SYNDROME:  S.R.
Shi, Arch Otolaryngol (February, 1985, issue 111(2)).  Pp.  119-21.