De Barsy Syndrome

De Barsy Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report De Barsy Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Corneal Clouding-Cutis Laxa-Mental Retardation
  • Cutis Laxa-Growth Deficiency Syndrome
  • De Barsy-Moens-Diercks Syndrome
  • Progeroid Syndrome of De Barsy

Disorder Subdivisions

  • None

General Discussion

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities.

Symptoms

One source of information on De Barsy syndrome lists 48 separate entities among the clinical signs of the syndrome. Of these, 17 are described as very frequent signs and 12 are described as frequent signs.



Those listed as very frequent signs include:

Prematurely aged face (progeria)

Loose skin folds due to reduced elasticity (cutis laxa)

Corneal clouding/opacity

Mental retardation

Muscle weakness (hypotonia)

Thin lips

Knock-knees (genu varum)

Hardening of the fat tissues under the skin (lipoatrophy)

Exaggerated reflexes (hyperreflexia)

Large/long ears

Outward protruding forehead (frontal bossing)

Soft spots usually in the skull (fontanelle)

Movement disorders

Short stature/dwarfism

Increased skin pigmentation, diffusely distributed



Among the signs met with frequently are:

Small headedness

Eyebrows that grow together (synophrys)

Shortsightedness (myopia)

Cataracts

Simian crease (one rather than three in the palm of the hand)

Increased body hair

Hyperextensible joints (esp. thumbs, great toes and hips)

Small or receding jaw (micrognathia/retrognathia)

Causes

De Barsy Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

De Barsy Syndrome is a very rare disorder that may affect males slightly more often than females. Between 35 and 45 cases of this disorder have been reported in the medical literature.

Standard Therapies

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOK

Buyce ML. Editor-in-Chief. Birth Defects Encyclopedia. Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc., Dover, MA; 1990:476.



JOURNAL ARTICLES

Arazi M, Kapicioglu MI, Mutlu M. The de Barsy syndrome. Turk J Pediatr. 2001;43:79-84.



Aldave AJ, Eagle RC Jr, Streten BW, et al. Congenital corneal opacification in DE Barsy syndrome. Arch Opthalmol. 2001;119:285-88.



Kukkola A, Kauppila S, Risteli L, et al. New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome and Ehlers-Danlos syndrome IV. J Med genet. 1998;35:513-18.



Stanton RP, Rao N, Scott CI Jr. Orthopaedic manifestations in de Barsy syndrome. J Pediatr Orthop. 1994;14:60-62.



Pontz BF, ZeppF, Stoss H. Biochemical, morphological and immunological findings in a patient with cutis laxa-associated inborn disorder. Eur J Pediatr. 1986;145:428-34.



Kunze J, Majewski F, Montgomery P, et al. De Barsy syndrome - an autosomal recessive, progeroid syndrome. Eur J Pediatr. 1985;144:348-54.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 219150: Last Edit Date; 6/11/1999.



Progeroid syndrome de barsy type. List of clinical signs. orphanet. nd.2pp

www.orpha.net



Brown WT. Progeria Syndrome Fact Sheet. The Progeria Research Foundation, Inc. nd. 2pp.

http://www.progeriaresearch.org/whatIs/whatis.htm

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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