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$Unique_ID{BRK03990}
$Pretitle{}
$Title{Melnick-Needles Syndrome}
$Subject{Melnick-Needles Syndrome MNS Melnick-Needles Osteodysplasty
Osteodysplasty of Melnick and Needles Osteodysplasty Multiple Epiphyseal
Dysplasia }
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
650:
Melnick-Needles Syndrome
** IMPORTANT **
It is possible that the main title of the article (Melnick-Needles
Syndrome) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
MNS
Melnick-Needles Osteodysplasty
Osteodysplasty of Melnick and Needles
Osteodysplasty
Information on the following disease can be found in the Related
Disorders section of this report:
Multiple Epiphyseal 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.
Melnick-Needles Syndrome is a genetic disorder characterized by abnormal
bone development. Prominent eyes, an extremely small lower jaw, bowing of
the bones in the arms and legs, and other bone abnormalities may occur.
Symptoms
Melnick-Needles patients have a particular facial appearance with prominent,
widely-spaced eyes, full cheeks, small facial bones, and an unusually small
lower jaw (micrognathia). The skull may be slow to develop. The way in which
Melnick-Needles patients bring their teeth together (bite) may be abnormal.
The upper arms and the last bones in the fingers (distal phalanges) may
be shorter than normal. One of the short bones of the arm (radius) and of
the leg (fibula) may be bowed. The distal (farthest from the body) ends of
the long bone of the arm (humerus) and of the two short bones of the leg
(tibia, fibula) may be flared. The connection between the long bone of the
leg (femur) and the hip may be misaligned (coxa valga), producing an unusual
walking pattern (gait).
Melnick-Needles patients may also have a relatively small chest cavity
(thoracic cage) with irregular ribbon-like ribs, a short collarbone
(clavicle), and narrow shoulders. The lower part of their chest has a hollow
shape (pectus excavatum). The vertebrae may be longer than normal. Part of
the pelvis (ilium) may also be flared.
Occasionally, dislocation of the hip may occur. Also, the tube that runs
from the kidney to the bladder (ureter) may be abnormally narrow. This may
lead to urine retention and kidney problems.
Patients with Melnick-Needles Syndrome may develop osteoarthritis of the
back and/or hip in later years. The shape of the pelvis in females may make
normal childbirth difficult. Melnick-Needles patients may be unusually
susceptible to respiratory infections. Height usually is not affected.
Causes
Confusion exists on the exact mode of inheritance of Melnick-Needles
Syndrome. This disorder appears to be an X-linked dominant trait; however,
autosomal recessive inheritance has also been suggested. Melnick-Needles
Syndrome may also occur as a mutation without any family history of bone
disease.
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 X-linked dominant disorders the female with only one X chromosome
affected will develop the disease. However, the affected male always has a
more severe condition. Sometimes affected males die before birth so that
only female patients survive.
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 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
Melnick-Needles Syndrome occurs at birth and affects more females than males.
Related Disorders
Symptoms of the following disorder can be similar to those of Melnick-Needles
Syndrome. Comparisons may be useful for a differential diagnosis:
Multiple Epiphyseal Dysplasia is a hereditary bone disorder that affects
females and males equally. It is detectable between two and five years of
age with the appearance of a waddling gait. Patients may experience pain as
a result of osteoarthritis in the joints. Body size tends to be almost
normal, with the exception of the hands and feet which are disproportionately
small.
Therapies: Standard
Treatment of Melnick-Needles Syndrome is symptomatic and supportive. 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 Melnick-Needles Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
NIH/National Institute of Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: K.L. Jones;
W.B. Saunders Company, 1988. Pp. 528-529.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns
Hopkins University Press, 1986. Pp. 1050, 1337.
MELNICK-NEEDLES SYNDROME IN MALES: M. Krajewska-Walasek, et al.; Am J
Med Genet (May, 1987: issue 27(1)). Pp. 153-158.