$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.