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$Unique_ID{BRK03630}
$Pretitle{}
$Title{Craniometaphyseal Dysplasia}
$Subject{Craniometaphyseal Dysplasia Osteochondroplasia Pyle's Disease
Osteopetrosis Frontometaphyseal Dysplasia}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
735:
Craniometaphyseal Dysplasia
** IMPORTANT **
It is possible that the main title of the article (Craniometaphyseal
Dysplasia) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
Osteochondroplasia
Information on the following diseases can be found in the Related
Disorders section of this report:
Pyle's Disease
Osteopetrosis
Frontometaphyseal Dysplasia
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.
Craniometaphyseal Dysplasia is a rare genetic disorder that is
characterized by head and facial abnormalities, hearing loss and bone
deformities of the legs.
Symptoms
Craniometaphyseal Dysplasia is a genetic disorder that is usually evident at
birth. This disorder is characterized by the abnormal growth (hyperostosis)
or hardening of the bones of the forehead and back of the head. The facial
bones may show thickening, especially at the bridge area of the nose and
lower jaw bone (mandible). The nose is abnormally small with narrow nasal
passages and inflammation of the mucous membranes (rhinitis). The eyes are
widely spaced and bulging (proptosis). If cranial pressure is not relieved
there may be facial paralysis, deafness and loss of vision due to compression
of the brain and cranial nerves. The limbs may be affected by a hardening
(sclerosis) or broadening of the shaft of the long bones close to the growth
center (metaphyseal splaying). Intelligence is usually normal.
Causes
The exact cause of Craniometaphyseal Dysplasia is not known. It is believed
to be inherited as an autosomal dominant genetic trait, but may also be
inherited as a recessive genetic 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 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 a
person receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will show no 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
Craniometaphyseal Dysplasia is a very rare disorder that affects males and
females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of
Craniometaphyseal Dysplasia. Comparisons may be useful for a differential
diagnosis:
Pyle's Disease is often confused with Craniometaphyseal Dysplasia. It is
a rare genetic disorder characterized by head and facial abnormalities, and
multiple skeletal deformities. Occasionally there may be muscle weakness,
joint pain, fractures, an elongated big toe, curvature of the spine
(scoliosis) and misplaced teeth.
Osteopetrosis is a rare genetic bone disorder. It can be inherited as
either a dominant or recessive trait. Initial symptoms of the dominant form
of Osteopetrosis 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. Severe anemia may occur
due to obliteration of the bone marrow.
A more serious recessive form of Osteopetrosis is present at birth and
can be diagnosed by skeletal x-rays. Symptoms may include retardation of
growth, enlargement of the head, a deformity of the base of the skull and
delayed closure of the soft spot on the skull of infants with this disorder.
Vision failure, cataracts, deafness, dental decay, chest deformity and brain
damage are also symptomatic of the more severe form of Osteopetrosis. (For
more on this disorder, choose "Osteopetrosis" 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 (supraorbital bossing), small jawbone
(mandible) and an incomplete development of the sinuses. There may also be
multiple deformities of the teeth and bones. Occasionally mental retardation
may occur.
Therapies: Standard
Early surgical treatment of Craniometaphyseal Dysplasia to relieve cranial
pressure and correct the facial deformities may help eliminate the sight and
hearing complications associated with this disorder. Genetic counseling may
be of benefit for patients and their families. Other treatment is
symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through
January 1990. 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 Craniometaphyseal Dysplasia,
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
1-800-535-3643
National Foundation for Facial Reconstruction
550 First Ave.
New York, NY 10016
(212) 340-5400
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: McKusick; Johns Hopkins University
Press, 1986. Pp. 181, 879.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L.
Jones, M.D.; W.B. Saunders Co., 1988. Pp. 349.
CRANIOMETAPHYSEAL DYSPLASIA. F. Martin; J LARYNGOL OTOL (February 1977,
issue 91 (2)). Pp. 159-169.
OPTIC ATROPHY AND VISUAL LOSS IN CRANIOMETAPHYSEAL DYSPLASIA. C.
Puliafito, et al.; AM J OPTHALMOL (November 1981, issue 92 (5)). Pp. 696-
701.
CRANIOMETAPHYSEAL DYSPLASIA--VARIABILITY OF EXPRESSION WITHIN A LARGE
FAMILY. P. Breighton, et al.; CLIN GENET (March 1979, issue 15 (3)). Pp.
252-258.
AUTOSOMAL DOMINANT CRANIOMETAPHYSEAL DYSPLASIA. CLINICAL VARIABILITY. A.
Carnevale, et al.; CLIN GENET (January 1983, issue 23 (1)). Pp. 17-22.