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$Unique_ID{BRK03565}
$Pretitle{}
$Title{Cardio-Facio-Cutaneous Syndrome}
$Subject{Cardio-Facio-Cutaneous Syndrome Cardio-Facial Cutaneous Syndrome CFC
Syndrome Facio-Cardio-Cutaneous Syndrome Hydrocephalus Ichthyosis}
$Volume{}
$Log{}

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

877:
Cardio-Facio-Cutaneous Syndrome

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

Synonyms

     Cardio-Facial Cutaneous Syndrome
     CFC Syndrome
     Facio-Cardio-Cutaneous Syndrome

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

     Hydrocephalus
     Ichthyosis

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.

Cardio-Facio-Cutaneous Syndrome is a rare disorder in which the patient
is born with multiple physical deformities and mental retardation.  The major
features of this disorder are:  abnormal skin conditions; an unusual face;
sparse, curly hair; heart defects and mental retardation.

Symptoms

Patients with Cardio-Facio-Cutaneous Syndrome have a characteristic face in
which the opening between the upper and lower eyelids slants downward, the
bridge of the nose is flat, the ears are angled back with prominent cartilage
on the outer ear, the forehead is unusually high, the ridge above the orbit
of the eye is underdeveloped, and the large bones that form the lower part of
the head (temporal bones) are constricted.

Skin abnormalities vary from patchy formation of skin overgrowth
(hyperkeratosis) to a condition in which the skin is very dry and cracked
(Ichthyosis).  (For more information on these disorders choose
"Hyperkeratosis" and/or "Ichthyosis" as your search terms in the Rare Disease
Database).

The most common heart defects are narrowing of the structure that allows
blood to flow through the pulmonary artery and on to the lungs (pulmonary
valve), and/or a condition in which the septum separating the two atria is
incompletely formed before birth and the opening persists after birth (atrial
septal defect).  (For more information on this disorder choose "Atrial Septal
Defect" as your search term in the Rare Disease Database).

Other symptoms found in some patients with CFC Syndrome are:  growth
failure; mental retardation;  sparse, curly hair; an abnormal amount of
spinal fluid in the head causing widening of the ventricles (Hydrocephaly)
and/or harmless tumors made up of a mass of blood vessels that may be present
in several parts of the body (hemangiomatosis).

Causes

All of the reported cases of Cardio-Facio-Cutaneous Syndrome have been
sporadic (no known cause).  None of the parents have been affected and there
have been no "blood" relationships between parents.  However, some scientists
suspect that CFC Syndrome may be inherited through an autosomal dominant
trait.

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.

Affected Population

Cardio-Facio-Cutaneous Syndrome is a very rare disorder that affects males and
females in equal numbers.

There have been approximately 16 cases of this disorder reported in the
medical literature.  These cases have been reported in the United States,
Australia and Europe.

Related Disorders

Symptoms of the following disorders can be similar to those of CFC Syndrome,
or may occur in conjunction with this disorder:

Hydrocephalus is characterized by an unusually large head.  It is caused
by the abnormal dilation of the ventricles (cerebral spaces) in the brain and
the obstruction of the spinal fluid passages (ventricular block) of the
central nervous system.  This accumulation of fluid in the head puts
excessive pressure on the tissues of the brain, and causes an enlargement of
the head.  Hydrocephalus may be a congenital (inborn) or an acquired
disorder, and if not treated promptly it may cause brain damage.  (For more
information on this disorder choose "Hydrocephalus" as your search term in
the Rare Disease Database).


Ichthyosis is a general term describing a group of skin disorders that
are characterized by an excessive accumulation of large amounts of dead skin
cells (squames) in the top layer of the skin.  The conversion of an
abnormally large number of skin cells into squamous cells is thought to be
caused by a defect in the metabolism of the fat-rich matrix around skin cells
known as corneocytes.  The cells can be thought of as bricks, while the
matrix would be the mortar holding these cells together.  In general, all
forms of Ichthyosis cause dry scaly skin.  (For more information on this
disorder choose "Ichthyosis" as your search term in the Rare Disease
Database).

Other disorders with craniofacial abnormalities that may appear to be
similar to those of Cardio-Facio-Cutaneous Syndrome may be:  Apert Syndrome;
Crouzon Disease; Oral-Facial-Digital Syndrome; Nager Acrofacial Dysostosis,
AFD, Nager Type; Pyles Disease; and/or Frontometaphyseal Dysplasia.  (For
more information on these disorders use "craniofacial" as your search term in
the Rare Disease Database).

Therapies:  Standard

The dry scaly skin of Ichthyosis is treated by applying skin softening
(emollient) ointments, including plain petroleum jelly.  This can be
especially effective after bathing while the skin is still moist.  Salicylic
acid gel is another particularly effective ointment.  The skin should be
covered at night with an airtight, waterproof dressing when this ointment is
used.  Lactate lotion can also be an effective treatment for this disorder.

Surgery may be performed to correct the heart defects.

Standard treatment for Hydrocephalus is the insertion of a shunt or tube
into the head cavity which drains the excess cerebrospinal fluid into a part
of the body that can absorb it.  In growing children the shunt may have to be
lengthened periodically.  Complications may arise if the shunt becomes
clogged or stops functioning.  At times a new shunt may have to be
reimplanted.

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

Therapies:  Investigational

Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and
etretinate are often effective against symptoms of Ichthyosis, but can cause
toxic effects on the bones in some cases.  A synthetic derivative of Vitamin
A, isotretinoin, when taken by pregnant women, can cause severe birth defects
to the fetus.  These Vitamin A compounds have not yet been approved by the
Food and Drug Administration (FDA) for treatment of Ichthyosis, and should be
avoided by women of child bearing age.

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 Cardio-Facio-Cutaneous Syndrome, please contact:

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

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     Cardio-Facio-Cutaneous Syndrome
     CFC Support Network
     RD 4, Box 319B
     McKee City, NJ  08232

     Foundation for Ichthyosis and Related Skin TYpes, Inc. (F.I.R.S.T.)
     P.O. Box 20921
     Raleigh, NC  27619-0921
     [phone]
     [phone]

     American Heart Association
     7320 Greenville Ave.
     Dallas, TX  75231
     [phone]

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     [phone]

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  2204
     [phone]
     [phone]

     NIH/National Institute of Child Health and Human Development (NICHD)
     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.  164.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 282.