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$Unique_ID{BRK04000}
$Pretitle{}
$Title{Metaphyseal Chondrodysplasia, McKusick Type}
$Subject{Metaphyseal Chondrodysplasia, McKusick Type Cartilage-Hair Hypoplasia
Cartilage-Hair Hypoplasia with Short-Limbed Dwarfism CHH Hypochondroplasia
Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Schmid
Type }
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
636:
Metaphyseal Chondrodysplasia, McKusick Type
** IMPORTANT **
It is possible that the main title of this article (Metaphyseal
Chondrodysplasia, McKusick Type) is not the name you expected. Please check
the SYNONYM list to find the alternate names and disorder subdivisions
covered by this article.
Synonyms
Cartilage-Hair Hypoplasia
Cartilage-Hair Hypoplasia with Short-Limbed Dwarfism
CHH
Information on the following disorders can be found in the Related
Disorders section of this report:
Hypochondroplasia
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal Chondrodysplasia, Schmid Type
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 physician and/or the agencies listed in the "Resources" section
of this report.
Metaphyseal Chondrodysplasia (McKusick Type) is a progressive genetic
bone disorder. It is characterized by progressive short-limbed dwarfism
caused by abnormal development of the cartilage at the ends of the long
bones. Fine sparse hair on the head, eyebrows and eyelashes also occurs.
Symptoms
Metaphyseal Chondrodysplasia (McKusick Type) is characterized by progressive
short-limbed dwarfism. Bones at the periphery of the body such as hands,
feet and knees are primarily affected. Fingers are usually excessively
flexible (hypermobile). The spine may be affected. The hair is fine and
sparse on the head, eyebrows and eyelashes. Adults with this disorder may
reach a height of about 4 feet. Symptoms vary greatly in severity, ranging
from mild to severe.
Causes
Metaphyseal Chondrodysplasia (McKusick Type) is inherited through autosomal
recessive genes.
Human traits, including the classic genetic diseases, are the product of
the interaction of two genes for that condition, 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 a person receives one normal gene and one gene for the
disease, he or she 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 25 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
Metaphyseal Chondrodysplasia (McKusick Type) is a rare disorder affecting
males and females in equal numbers. The disorder is more common in Finland
than in other countries. It was first identified in Amish communities in the
United States
Related Disorders
Symptoms of the following disorders can be similar to those of Metaphyseal
Chondrodysplasia (McKusick Type). Comparisons may be useful for a
differential diagnosis:
Hypochondroplasia is an autosomal dominant genetic disorder characterized
by small stature with disproportionately short limbs. Hands and feet are
short and broad. The relative shortening of the limbs may be mild. Mild
bowleg and heel abnormalities may also be present. The head tends to be
broad, with a prominent forehead.
Metaphyseal Chondrodysplasia (Jansen Type), also known as Metaphyseal
Chondrodysplasia, Murk Jansen Type, is a rare autosomal dominant genetic
disorder characterized by progressive, short-limbed dwarfism. The spine,
pelvis and lower legs are distorted. The chin recedes and the fingers are
very short. Sclerosis occurs in the skull bones, including those of the
inner ear, leading to deafness.
Metaphyseal Chondrodysplasia (Schmid Type) is a rare autosomal dominant
genetic disorder characterized by moderate, progressive shortening of
stature. Bowed legs and a waddling gait also occur. Adult height reaches
about 140 cm (4 ft., 8 in.).
Therapies: Standard
Physiotherapy and orthopedic treatment may be helpful for patients with
Metaphyseal Chondrodysplasia (McKusick Type). Genetic counseling may be of
benefit for patients and their families.
Therapies: Investigational
This disease entry is based upon medical information available through April
1989. 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 Metaphyseal Chondrodysplasia, McKusick Type, please
contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
Little People of America
P.O. Box 633
San Bruno, CA 94066
(415) 589-0695
Parents of Dwarfed Children
11524 Colt Terrace
Silver Spring, MD 20902
(301) 649-3275
Short Stature Foundation
17200 Jamboree Rd., Suite J
Irvine, CA 92714-5828
(714) 474-4554
800-24 DWARF
Short Stature Foundation
P.O. Box 5356
Huntington Beach, CA 92615-5356
For genetic information and genetic counseling referrals, please contact:
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, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 488-489, 1107.
THE JANSEN TYPE OF METAPHYSEAL CHONDRODYSPLASIA: CONFIRMATION OF
DOMINANT INHERITANCE AND REVIEW OF RADIOGRAPHIC MANIFESTATIONS IN THE NEWBORN
AND ADULT: J. Charrow, et al.; American Journal Med Genet (June 1984: issue
18(2)). Pp. 321-327.
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE. CLINICAL AND RADIOGRAPHIC
DELINEATION WITH A REVIEW OF THE LITERATURE: R.S. Lachman, et al.; Pediatr
Radiol (1988: issue 18(2)). Pp. 93-102.