What is Phelan-McDermid syndrome?

What is Phelan-McDermid syndrome?

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.

Is Phelan-McDermid syndrome progressive?

Only about 600 people worldwide are diagnosed with Phelan-McDermid syndrome. A few studies have suggested that the disorder’s features may change with age and may include a progressive loss of skills.

Is Phelan-McDermid syndrome inherited?

Phelan-McDermid syndrome, caused by a deletion of 22q13. 3 that includes at least a part of SHANK3 or a pathogenic variant in SHANK3, is inherited in an autosomal dominant manner.

How many people in Australia have Phelan-McDermid syndrome?

Phelan McDermid Syndrome is an extremely rare condition which affects about 600 people worldwide. Of these, only about 30 are in Australia.

How many people in the world have Phelan-McDermid?

There are over 300 families who are diagnosed with PMS in the UK & Ireland, and almost 3000 registered worldwide. All people with PMS have difficulty communicating; many are non-verbal, have issues around cognitive development and mobility and most have low tone in their limbs.

Can Phelan-McDermid be diagnosed before birth?

Generally, Phelan-McDermid syndrome will not be diagnosed prenatally. Testing usually is initiated as a result of trying to identify the cause of hypotonia or global developmental delay. Genetic testing may be performed by a variety of methods. The most common testing method is chromosomal microarray analysis (CMA).

Is Phelan-McDermid syndrome autism?

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD).

How do you test for Phelan-McDermid syndrome?

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