What are the symptoms of Phelan-McDermid syndrome?

What are the symptoms of Phelan-McDermid syndrome?

What are the symptoms of Phelan-McDermid syndrome?

• developmental and speech delays.
• autism spectrum disorder.
• intellectual disability.
• behavioral problems.
• seizures.
• trouble sleeping.
• low muscle tone.

What disease does deletion mutation cause?

Deletion mutations are actually the cause for a large number of genetic diseases, such as two-thirds of cystic fibrosis cases and the cat cry syndrome, which is so-called because children with this syndrome often have a cry that sounds similar to a cat meowing.

How many people have been diagnosed with Phelan-McDermid syndrome?

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.

What happens in deletion syndrome?

A common condition of 22q11. 2 deletion syndrome is a cleft palate — an opening (cleft) in the roof of the mouth (palate) — with or without a cleft lip. Other, less visible abnormalities of the palate that may also be present can make it difficult to swallow or produce certain sounds in speech.

Is Phelan-McDermid syndrome a neurological disorder?

Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.

What happens in Deletion Syndrome?

What is Deletion Syndrome?

22q11. 2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.

How long do people with deletion syndrome live?

Survival to ages 40 and 50 years was 89.9% and 73.9%, respectively. Median age at death was 41.5 (range 18.1–68.6) years. Deaths included two (7.7%) of 26 subjects with neither major congenital heart disease (CHD) nor schizophrenia.

What causes deletion syndrome?

Overview. DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.

How long do people with Deletion Syndrome live?

Is Deletion Syndrome genetic?

2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children.