| Entry | H01238 Disease |
|---|---|
| Other DBs | ICD-11: LD44.NY ICD-10: Q93.5 MeSH: C536801 OMIM: 606232 |
| Reference | PMID:11431708 |
| Authors | Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O |
| Title | Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. |
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. DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
Phelan-McDermid Syndrome is a rare genetic disorder that involves a deletion of 22q13 or a mutation of the SHANK3 gene. DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING Molecular genetic testing (usually chromosome microarray analysis, or CMA); or Fluorescent in situ hybridization (FISH) test analysis.
ICD-9: 758.39 Individuals with Phelan-McDermid syndrome generally have life-long complications associated with this disorder with no apparent life-threatening organic malformations. Individuals surviving to adulthood may not be able to function independently and may require supportive services.
The 2021 edition of ICD-10-CM Q93.5 became effective on October 1, 2020. This is the American ICD-10-CM version of Q93.5 - other international versions of ICD-10 Q93.5 may differ. A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, ...
Phelan-McDermid syndrome is a rare genetic disorder. It's often associated with speech and developmental delays, as well as autism spectrum disorder.
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.
Abstract. The deletion 22q13. 3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
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 (pathogenic) variant of the SHANK3 gene.
No clinical diagnostic criteria have been established for Phelan-McDermid syndrome. The diagnosis is based on laboratory testing to establish a deletion of 22q13 or a pathogenic variant in SHANK3.
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.
October 22, 2019: Phelan-McDermid Syndrome Awareness Day.
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. However, given the syndrome's rarity and relatively recent recognition, the frequency of those changes was unclear.
How Rare Is It? It is estimated that 1% of people with autism have Phelan-McDermid syndrome (PMS). That means that between 1/8,000-15,000 (including 22q13.
Sequencing and mapping efforts have already revealed that chromosome 22 is implicated in the workings of the immune system, congenital heart disease, schizophrenia, mental retardation, birth defects, and several cancers including leukemia.
There is no one treatment specifically for Phelan-McDermid syndrome. Treatment is centered on treating the symptoms and careful screening for any associated disorders. Clinical trials are underway looking for new treatments for this disorder.
The SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.
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.
There is no one treatment specifically for Phelan-McDermid syndrome. Treatment is centered on treating the symptoms and careful screening for any associated disorders. Clinical trials are underway looking for new treatments for this disorder.
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells....Chromosome 8GenBankCM000670 (FASTA)19 more rows
A duplication of 22q12 and/or 22q13 is a very rare genetic condition in which the cells of the body have a small but variable amount of extra genetic material from one of the body's 46 chromosomes – chromosome 22.
The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions.
22q13 deletion syndrome (spoken as twenty-two q one three) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion should be diagnosed as 22q13 deletion syndrome. 22q13 deletion syndrome is often placed in the more general category of Phelan-McDermid Syndrome (abbreviated PMS), which includes some mutations and microdeletions. The PMS name is less precise, since there is disagreement among researchers as to which variants belong in the PMS category. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions. This latter definition of PMS is incompatible with the defintion of 22q13 deletion syndrome by those who first described 22q13 deletion syndrome.
Q93.2 is a billable ICD code used to specify a diagnosis of chromosome replaced with ring, dicentric or isochromosome. A 'billable code' is detailed enough to be used to specify a medical diagnosis.
The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions.
22q13 deletion syndrome (spoken as twenty-two q one three) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion should be diagnosed as 22q13 deletion syndrome. 22q13 deletion syndrome is often placed in the more general category of Phelan-McDermid Syndrome (abbreviated PMS), which includes some mutations and microdeletions. The PMS name is less precise, since there is disagreement among researchers as to which variants belong in the PMS category. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions. This latter definition of PMS is incompatible with the defintion of 22q13 deletion syndrome by those who first described 22q13 deletion syndrome.
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.
22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.
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. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children.