Phelan-McDermid syndrome

22q13 Deletion Syndrome


Type of disease: Rare conditions

22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as decreased sensitivity to pain, reduced ability to sweat, or decreased muscle strength, as well as autistic-like behavior and developmental delays. Although there is currently no cure for 22q13 deletion syndrome, there are various resources to help manage the condition and treat birth defects such as oral-motor therapy, physical and occupational therapy, and augmented communication strategies. There are about 600 cases known. Doctors seek help from various therapists and community services to provide support and care for families affected by 22q13 deletion syndrome. There are about 600 cases known.

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