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Reye Syndrome

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Evidence-based medicine

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Methotrexate

De Barsy syndrome

Educational competencies have been created for the education of health care professionals.

Signs and symptoms
Infants have the characteristic wrinkled, inelastic skin. Their abdomens and upper side of their hands and feet have visible veins. Their growth and development are affected. There are issues with cognitive function and speech. They may later have issues with hypermobility of joints, dislocation of their hips, foot deformity and scoliosis.

Children may have prematurely aged skin; the middle of their face have underdeveloped structure and skin. Infants may have widely spaced eyes, a prominent forehead, a small, upturned nose, large, malformed ears, and widely spaced eyes. Because of the rarity of the syndrome, there are no precise prevalence or incidence statistics.

Differential Diagnoses
There are diseases that are like De Barsy syndrome which could be considered in any diagnosis. Examples include cutis laxa disorders, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum.

Diagnosis
Individuals are diagnosed by recognition symptoms, a thorough patient history, laboratory tests and clinical evaluation. Tests include a biopsy of the skin looking for differences in elastic fibers. Diagnosis may include molecular genetic testing. In individuals with a suspected ALDH18A1-related cases, screening for a specific purine synthesis defect could be included.

There is a focus on treating and individual's symptoms. Interprofessional care is needed and families may need multiple specialists providing care for their child. Genetic counseling and psycho-social support can also help families.

Treatment
Individuals with de Barsy syndrome often need multiple surgeries. Surgeries are often needed to treat skeletal, eye, or hernia issues. Skin issues may be improved with plastic surgery. Medications may be prescribed to individuals with ALDH18A1-related de Barsy syndrome. Children with De Barsy syndrome can be helped with physical therapy and early developmental intervention.

De Barsy syndrome is also known as cutis laxa-corneal clouding-intellectual disability syndrome and Progeroid syndrome, De Barsy type.