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- $Unique_ID{BRK03612}
- $Pretitle{}
- $Title{Cockayne Syndrome}
- $Subject{Cockayne Syndrome Dwarfism with Renal Atrophy and Deafness Progeroid
- Nanism Deafness-Dwarfism-Retinal Atrophy Neill-Dingwall Syndrome}
- $Volume{}
- $Log{}
-
- Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
-
- 176:
- Cockayne Syndrome
-
- ** IMPORTANT **
- It is possible the main title of the article (Cockayne Syndrome) is not
- the name you expected. Please check the SYNONYMS listing to find the
- alternate and disorder subdivisions covered by this article.
-
- Synonyms
-
- Dwarfism with Renal Atrophy and Deafness
- Progeroid Nanism
- Deafness-Dwarfism-Retinal Atrophy
- Neill-Dingwall Syndrome
-
- 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.
-
-
- Cockayne Syndrome is a progressive disorder which manifests itself during
- the second year of life. It is characterized by a hypersensitivity to
- sunlight and retardation of growth.
-
- Symptoms
-
- Following a normal infancy, the onset of Cockayne Syndrome is during the
- second year of life. Cutaneous photosensitivity may result in excess
- pigmentation and scarring. The patient may experience a decrease in vision
- and unsteady gait. There may also be progressive deafness and mental
- deficiency.
-
- Signs of the disorder include dwarfism accompanied by relatively long
- extremities and large hands and feet. Musculoskeletal abnormalities may
- include large joints which are habitually flexed, kyphosis (humpback), and a
- skull which is thickened and relatively smaller in size. The patients
- extremities may feel cold and have a bluish coloration. There may be a lack
- of subcutaneous fat in the face with a protruding jaw (prognathism), sunken
- eyes and a thin nose. Dental caries, a coarse-sounding voice, partial
- deafness, tremor, unsteady gait, and mental deficiency may also occur.
-
- Further manifestations of Cockayne Syndrome may include poor response of
- the pupil to dilatation, optic atrophy with retinal pigmentation, and
- cataracts. There may occasionally also be an enlarged liver and spleen
- (hepatosplenomegaly), and older patients may be sexually underdeveloped.
-
- Causes
-
- Cockayne Syndrome may be hereditary in certain families (heredofamilial) as
- an autosomal recessive trait. (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 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.)
-
- The disorder may be caused by an extra chromosome or an inborn error of
- metabolism.
-
- Related Disorders
-
- Some aspects of Cockayne Syndrome are similar to Hutchinson-Gilford Syndrome.
- The Neill-Dingwall Syndrome appears to have the same characteristics and, in
- fact, the two disorders may be identical.
-
- Therapies: Standard
-
- Treatment of Cockayne Syndrome 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 Cockayne Syndrome, please contact:
-
- National Organization for Rare Disorders (NORD)
- P.O. Box 8923
- New Fairfield, CT 06812-1783
- (203) 746-6518
-
- Cockayne Syndrome Share and Care
- 124 South Street
- North Valley Stream, NY 11580
-
- Cockayne Syndrome Registry
- c/o Ted Brown
- NYS Institute for Basic Research
- 1050 Forest Hill Rd.
- Staten Island, NY 10314
-
- NIH/National Institute of Child Health and Human Development
- 9000 Rockville Pike
- Bethesda, MD 20892
- (301) 496-5133
-
- 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
-
- Research Trust for Metabolic Diseases in Children
- Golden Gates Lodge, Weston Rd.
- Crewe CW1 1XN, England
- Telephone: (0270) 250244
-
- International Tremor Foundation
- 360 W. Superior St.
- Chicago, IL 60610
- (312) 664-2344
-
- For information on genetics 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
-
- SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
- Jones, M.D., W.B. Saunders, Co. 1988. Pp. 122-3.
-
- MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
- University Press, 1986. Pp. 871-2.
-
-