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De Barsy syndrome
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De Barsy syndrome

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Contributors: Benjamin L. Mazer MD, MBA
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Synopsis

De Barsy syndrome : Corneal opacities, Dystonia, Failure to thrive, Hyperextensible skin, Hypotonia, Joint hypermobility, Short stature
De Barsy syndrome is a rare, autosomal recessive disorder of cutis laxa (loose skin). In addition to cutis laxa, patients can have corneal clouding, intellectual disability, premature aging, facial dysmorphisms, and musculoskeletal abnormalities. Certain forms of De Barsy syndrome have co-occurring deficiencies of amino acid metabolism that can result in hyperammonemia. Cutis laxa is thought to occur due to reduced synthesis of elastin and collagen types I and III.

De Barsy syndrome is usually caused by mutations in either the ALDH18A1 gene on chromosome 10q24.1 or the PYCR1 gene on chromosome 17q25.3.

Surgical intervention is available for some of the congenital defects. Dietary and medical intervention is necessary to correct metabolic abnormalities if they occur.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
59252009 – Cutis laxa-corneal clouding-oligophrenia syndrome

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Last Updated:04/05/2016
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De Barsy syndrome
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A medical illustration showing key findings of De Barsy syndrome : Corneal opacities, Dystonia, Failure to thrive, Hyperextensible skin, Hypotonia, Joint hypermobility, Short stature
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