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De Barsy Syndrome

Synonyms of De Barsy Syndrome

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

Disorder Subdivisions

No subdivisions found.

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.

Related Disorders

Symptoms of the following disorders can be similar to those of De Barsy Syndrome. Comparisons may be useful for a differential diagnosis:

Cutis Laxa is a rare connective tissue disorder characterized by lax skin that hangs in loose folds. The skin may be thickened and is often pigmented. There are two forms of this syndrome. The congenital form may be apparent at birth or within the first few months of life. This form may be inherited as either an autosomal dominant or as an autosomal recessive genetic trait. The acquired form of Cutis Laxa appears at puberty or later, and occurs less frequently. (For more information on this disorder, choose "Cutis Laxa" as your search term in the Rare Disease Database.)

Ehlers-Danlos Syndrome is an inherited connective tissue disorder. It is characterize by the ability of patients to flex their bodies beyond the normal range (articular hypermobility), skin that stretches abnormally (hyperelasticity of the skin), and widespread tissue fragility; i.e., skin, blood vessels and other tissues can rupture from even minor trauma. There are six different forms of Ehlers-Danlos Syndrome. This disorder can be inherited as an autosomal dominant, autosomal recessive or X-linked recessive genetic trait (For more information on this disorder, choose "Ehlers-Danlos Syndrome" as your search term in the Rare Disease Database.)

Hutchinson-Gilford Progeria Syndrome, or progeria of childhood, is a rare disorder characterized by dwarfism and extremely rapid aging. The child remains very small and sexually infantile, but gets grey hair, a wizened face, wrinkled skin, and many of the physical signs of old age. Males and females are affected equally. (For more information on this disorder, choose "Hutchinson-Gilford Progeria" as your search term in the Rare Disease Database.)

Pseudoxanthoma Elasticum is a rare disorder characterized by the appearance of small yellow elevated spots in the folds of the skin. The skin of the neck, under the armpits, the groin, and the areas around the naval become thickened, grooved, inelastic and loose. Brownish streaks appear in the retina of the eye. Retinal hemorrhage and severe vision loss may occur. Weak or absent pulses and easy fatigability of the extremities may cause intermittent limping. Pseudoxanthoma Elasticum is inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "Pseudoxanthoma Elasticum" as your search term in the Rare Disease Database.)

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

Organizations related to De Barsy Syndrome

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

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Report last updated: 2008/03/31 00:00:00 GMT+0