Get Deletion Syndrome 22q13 - Tennessee Dental Association - Tenndental

Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures.

A 2022 review notes that life expectancy for an individual with PMS is uncertain and will vary between individuals. People living with this condition do not typically experience life threatening issues but generally have lifelong complications related to the condition.

Time passes: As people with Phelan-McDermid syndrome get older, they tend to have more seizures and abnormal reflexes but fewer behavioral problems.

Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Hypotonia, feeding problems, and developmental delay are often the early presenting symptoms of deletion 22q13 syndrome.

Phelan-McDermid syndrome is very rare. Scientists estimate it occurs in about 2 to 10 of every 1 million live births. However, the condition can be difficult to detect, so it's underdiagnosed. It's been diagnosed in only about 2,200 to 2,500 people worldwide.

A 2022 review notes that life expectancy for an individual with PMS is uncertain and will vary between individuals. People living with this condition do not typically experience life threatening issues but generally have lifelong complications related to the condition.

Individuals with Phelan-McDermid syndrome generally have life-long complications associated with this disorder with no apparent life-threatening organic malformations.

Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Hypotonia, feeding problems, and developmental delay are often the early presenting symptoms of deletion 22q13 syndrome.

One to two percent of children born with this syndrome have a life expectancy of two to three years; however, most individuals reach adulthood and can live a life span into the fifties. Early treatment should be considered for the most severe issues with this condition to prolong life expectancy.

Most cases of 22q13. 3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

What is 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.

Normal stature and normal head size distinguish Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.

Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures.

A 2022 review notes that life expectancy for an individual with PMS is uncertain and will vary between individuals. People living with this condition do not typically experience life threatening issues but generally have lifelong complications related to the condition.

Time passes: As people with Phelan-McDermid syndrome get older, they tend to have more seizures and abnormal reflexes but fewer behavioral problems.

Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Hypotonia, feeding problems, and developmental delay are often the early presenting symptoms of deletion 22q13 syndrome.

Phelan-McDermid syndrome is very rare. Scientists estimate it occurs in about 2 to 10 of every 1 million live births. However, the condition can be difficult to detect, so it's underdiagnosed. It's been diagnosed in only about 2,200 to 2,500 people worldwide.

A 2022 review notes that life expectancy for an individual with PMS is uncertain and will vary between individuals. People living with this condition do not typically experience life threatening issues but generally have lifelong complications related to the condition.

Individuals with Phelan-McDermid syndrome generally have life-long complications associated with this disorder with no apparent life-threatening organic malformations.

Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Hypotonia, feeding problems, and developmental delay are often the early presenting symptoms of deletion 22q13 syndrome.

One to two percent of children born with this syndrome have a life expectancy of two to three years; however, most individuals reach adulthood and can live a life span into the fifties. Early treatment should be considered for the most severe issues with this condition to prolong life expectancy.

Most cases of 22q13. 3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

What is 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.

Normal stature and normal head size distinguish Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.