CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0375/03757.txt

Text File | 1994-01-17 | 10.3 KB | 249 lines

$Unique_ID{BRK03757}
$Pretitle{}
$Title{Frontofacionasal Dysplasia}
$Subject{Frontofacionasal Dysplasia Facio-fronto-nasal Dysplasia
Frontofacionasal Dysostosis Nasal-fronto-faciodysplasia Cranio-Fronto-Nasal
Dysplasia Median Cleft Face Syndrome}
$Volume{}
$Log{}

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

924:
Frontofacionasal Dysplasia

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

     Facio-fronto-nasal Dysplasia
     Frontofacionasal Dysostosis
     Nasal-fronto-faciodysplasia

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

     Cranio-Fronto-Nasal Dysplasia
     Median Cleft Face 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.

Frontofacionasal Dysplasia is a very rare disorder in which the patient
is born with abnormalities of the skull and face.  Cleft lip and palate as
well as premature closing of the soft spot (coronal suture) on the top of the
head causing excess growth of the head from side to side.  A variety of
malformations of the eyes, nose and bones of the skull may also be present.
Frontofacionasal Dysplasia is inherited as an autosomal recessive genetic
trait.

Symptoms

Frontofacionasal Dysplasia is a very rare disorder characterized by
abnormalities of the skull and face.  Cleft palate and cleft lip are two of
the major features of this disorder.  A cleft occurs when the roof of the
mouth has not completely closed at birth.  This opening is due to the failure
of the upper jaw bones to properly fuse together during development of the
embryo.

Premature closing of the soft spot (coronal suture) on the top of an
infants head causes excess growth of the head from side to side.  The outside
edges of the eyelids may be fused together narrowing the opening
(blepharophimosis) of the eyes.  The eyelids may droop downward (ptosis) and
there may be an S-shaped opening between the upper and lower eyelids.  Tumors
(dermoid) of the eye, a cleft along the edge of the eyeball (coloboma),
missing or sparse eyelashes, an inability to close the lower eyelids fully
(lagophthalmos), adhesions between the upper and lower eyelids, and an
abnormally wide space between the eyes may also be present.

A covered split in the skull (cranium bifidum occultum), a gap in the
skull in which there is a protrusion of the membranes that cover the brain
(encephalocele) as well as a tumor of fatty tissue (lipomata) on the frontal
lobe of the brain may also be present.

Causes

Frontofacionasal Dysplasia is inherited as an autosomal recessive genetic
trait.  A hereditary or "blood" relationship between parents (consanguinity)
has been reported in all cases of this disorder.  (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 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

There have been only three cases of Frontofacionasal Dysplasia reported in
the medical literature.  A brother and sister from one family and a female
from another.  All three cases came from Brazil.

Related Disorders

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

Cranio-Fronto-Nasal Dysplasia is a rare disorder thought to be inherited
as an autosomal dominant genetic trait with a wide variance in how it
expresses itself.  Widely spaced eyes, a missing or grooved tip of the nose,
and a broad nasal bridge are typically present.  Other abnormalities found
in this disorder may be a wide mouth, fingers or toes that have grown
together, a broad index finger, split nails, a malformed collarbone and a
broad tall forehead.

Median Cleft Face Syndrome is a rare disorder that occurs for no apparent
reason (sporadically).  This disorder affects males and females equally and
is characterized by a widely spaced central portion of the face.  The nasal
groove along the middle of the nose can vary greatly in severity from a
missing nasal tip to separation of the nose into two parts.  The eyes may be
widely spaced and some patients may have split-skull in the front as well as
hair in a V shape in the front (widow's peak).  There may also be other less
common physical abnormalities present.

There are many rare craniofacial disorders with facial characteristics
similar to Frontofacionasal Dysplasia.  For more information on these
disorders, choose "craniofacial" as your search term in the Rare Disease
Database.

Therapies:  Standard

Treatment of cleft lip and/or palate requires the coordinated efforts of a
team of specialists.  Pediatricians, dental specialists, surgeons, speech
pathologists, psychologists and others must systematically and
comprehensively plan the child's treatment and rehabilitation.

Cleft lip can be corrected by surgery.  Surgeons usually repair the lip
when the child is still an infant.  A second surgery is sometimes necessary
for cosmetic purposes when the child grows older.

Cleft Palate may be repaired by surgery or covered by an artificial
device (prosthesis) that closes or blocks the opening in the mouth.  Surgical
repair can be carried out in stages or in a single operation, according to
the nature and severity of the defect.  The first palate surgery is usually
scheduled during the toddler period.

Dental problems associated with clefts are also nearly always
correctable.  Braces are frequently needed later to straighten teeth that
have grown in crooked.

Routine testing of hearing should be scheduled for all preschool children
with clefts of the palate.  They may require tubes placed in their ears to
drain congestion and improve hearing.

When an encephalocele or cranium bifidum occultum are present on the
skull surgery is performed to correct the deformity.  Other surgical
procedures can be used to improve the facial structure of people with
Frontofacionasal Dysplasia.

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

Therapies:  Investigational

Orphan Products:  The palate of cleft palate patients is closed during early
childhood but difficulties may persist if the palate is excessively short in
relationship to the pharynx.  Researchers are studying a teflon-glycerine
paste that is applied to the rear of the pharynx in a minor surgical
procedure.  A rounded bump or ledge is formed, bringing the pharynx and
palate into the proper relationship with each other.  The hardened paste
remains in place indefinitely; no side effects have been observed.  Children
as young as eight years old have been treated with this procedure.

For further information on this procedure contact:

     William N. Williams, D.D.S.
     University of Florida
     College of Dentistry
     Box J-424
     Gainesville, FL  32610
     [phone]

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
August 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 Frontofacionasal Dysplasia, please contact:

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

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

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

     Society for the Rehabilitation of the Facially Disfigured, Inc.
     550 First Ave.
     New York, NY  10016
     [phone]

     About Face
     99 Crowns Lane
     Toronto, Ontario M5R 3PA
     Canada
     [phone]

     NIH/National Institute of Child Health and Human Development
     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. 1186.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp.  749.

FRONTOFACIONASAL DYSPLASIA:  EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE:
T.R. Gollop et al.; Am J Med Genet (October, 1984, issue 19(2)).  Pp. 301-5.