What does Phelan-McDermid syndrome?

Phelan-McDermid syndrome, also called 22q13 deletion syndrome, is a genetic disorder caused by deletion of part of chromosome 22 or a defect in a gene called SHANK3. The disorder can cause a wide range of symptoms varying in severity.

How many cases of Phelan-McDermid syndrome are there?

Prevalence. The prevalence of Phelan-McDermid syndrome is unknown. More than 1,500 individuals are registered with the Phelan-McDermid Syndrome Foundation (Venice, Florida, 2017). This does not represent the total number of affected individuals, as not all families worldwide register with the foundation.

How do you get Phelan-McDermid Syndrome?

Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene.

What is Phelan lucky?

What Is Phelan Lucky? #PhelanLucky is an annual campaign that raises funds and awareness for Phelan-McDermid syndrome (PMS). It has become the Phelan-McDermid Syndrome Foundation’s (PMSF’s) top fundraising event while increasing awareness of PMS on a global scale.

What is Smith Magenis Syndrome?

Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems.

What is 22q13 deletion syndrome?

22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a neurodevelopmental disorder characterized by hypotonia, global developmental delay with intellectual disability of varying degrees, severely delayed or absent speech and minor dysmorphia.

Who discovered Phelan-McDermid Syndrome?

In 1992, Katy Phelan and Heather McDermid published a case study of a boy with developmental delays who carries a deletion on chromosomal region 22q131.

When was Phelan-McDermid Syndrome Discovered?

PMS was initially described in the medical literature in 1985. Since that time, additional cases have been reported in the literature, with more than 1500 members in the Phelan-McDermid Syndrome Foundation membership. Males and females are equally likely to be affected.

What does Phelan McDermid syndrome stand for?

Phelan-McDermid Disease; Deletion 22q13 Syndrome; 22q13 Deletion Syndrome; Chromosome 22q13.3 Syndrome; Monosomy 22q13; Deletion 22q13.3 Syndrome Phelan-McDermid Syndrome is a rare genetic disorder that involves a deletion of 22q13 or a mutation of the SHANK3 gene.

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