| 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 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 (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.
Phelan-McDermid syndrome is a rare genetic disorder. It's often associated with speech and developmental delays, as well as autism spectrum disorder.
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.
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.
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.
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.
October 22, 2019: Phelan-McDermid Syndrome Awareness Day.
Summary. 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.
Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.
What Is Phelan Lucky? #PhelanLucky is an annual campaign that raises funds and awareness for Phelan-McDermid syndrome (PMS).
Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ). They often have an opening in the roof of the mouth called a cleft palate .
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.
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.
Phelan McDermid syndrome (PMS) or 22q13. 3 deletion syndrome is a rare neurodevelopmental disorder with over 600 cases documented so far. In 1985 the first case was reported (Watt et al., 1985), but only in 1994 Nesslinger and colleagues proposed that the symptoms described in individuals with 22q13.
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.
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Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is underdiagnosed and its true incidence remains unknown.
The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. 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.
The loss of 22q13.3 can result from a simple deletion, translocation, ring chromosome formation or, less commonly, from structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene.
The diagnosis of monosomy 22q13.3 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech.
Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like behavior (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders and cerebral palsy; see these terms).
Prenatal diagnosis should be offered for future pregnancies in families with inherited rearrangements.
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.
Affected individuals present with a broad array of medical and behavioral manifestations (tables 1 and 2). Patients are consistently characterized by global developmental delay, intellectual disability, speech abnormalities, ASD -like behaviors, hypotonia and mild dysmorphic features.
Various deletions affect the terminal region of the long arm of chromosome 22 (the paternal chromosome in 75% of cases ), from 22q13.3 to 22qter. Although the deletion is most typically a result of a de novo mutation, there is an inherited form resulting from familial chromosomal translocations involving the 22 chromosome.
The true prevalence of PMS has not been determined. More than 1,200 people have been identified worldwide according to the Phelan–McDermid Syndrome Foundation. However, it is believed to be underdiagnosed due to inadequate genetic testing and lack of specific clinical features. It is known to occur with equal frequency in males and females.
The first case of PMS was described in 1985 by Watt et al., who described a 14-year-old boy with severe intellectual disability, mild dysmorphic features and absent speech, which was associated with terminal loss of the distal arm of chromosome 22. In 1988, Phelan et al.