What is Phelan McDermid syndrome?
Rare genetic syndrome. 22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22.
What are the complications of Phelan-McDermid syndrome (ICD-9)?
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.
What tests are used to diagnose Phelan-McDermid 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 Molecular genetic testing (usually chromosome microarray analysis, or CMA); or Fluorescent in situ hybridization (FISH) test analysis.
What is the prognosis of Phelan-McDermid syndrome?
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.
What is the ICD 10 code for Phelan-McDermid syndrome?
EntryH01238 DiseaseRelated pathwayhsa04724 Glutamatergic synapseGeneSHANK3 [HSA:85358] [KO:K15009]Other DBsICD-11: LD44.NY ICD-10: Q93.5 MeSH: C536801 OMIM: 606232ReferencePMID:114317087 more rows
What is Phelan-McDermid 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 is a congenital condition (condition that is present at birth) that can affect people of all genders.
Is Phelan-McDermid syndrome a neurological disorder?
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.
When is Phelan-McDermid syndrome diagnosed?
Because the genetic changes vary, Phelan-McDermid syndrome (PMS) symptoms vary too, and can cause a wide range of medical, intellectual, and behavioral challenges. People who have PMS often show symptoms in very early childhood, sometimes at birth and within the first six months of life.
Is Phelan-McDermid syndrome a type of autism?
Phelan-McDermid syndrome is a rare genetic disorder. It's often associated with speech and developmental delays, as well as autism spectrum disorder. If someone in your family has been diagnosed with this chromosomal deletion syndrome, a team of specialists can help.
How is Phelan-McDermid diagnosed?
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.
How many people in the world have Phelan-McDermid?
There have since been over 500 identified cases worldwide. The deletion occurs in equal frequency in males and females. It is now often referred to as Phelan-McDermid syndrome, named after the people who first described and characterised the disorder: Drs Katy Phelan and Heather McDermid.
Can Phelan-McDermid be diagnosed before birth?
Generally, Phelan-McDermid syndrome will not be diagnosed prenatally. Testing usually is initiated as a result of trying to identify the cause of hypotonia or global developmental delay. Genetic testing may be performed by a variety of methods. The most common testing method is chromosomal microarray analysis (CMA).
What is the 22nd chromosome responsible for?
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.
What are the characteristics of Williams syndrome?
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 does 22q12 mean?
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.
What is the 8th chromosome responsible for?
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
What is the Phelan-McDermid Syndrome Foundation?
The Phelan-McDermid Syndrome Foundation’s (PMSF) goal is to find effective clinical therapies and, eventually, a cure. In 2010, the PMSF launched a strategic plan for science to accelerate PMS research.
What is PMS in children?
As children grow, additional symptoms develop. People with PMS typically have moderate to severe developmental and intellectual impairment, most do not acquire functional language, and about 75% have been diagnosed with an autism spectrum disorder.
Test name
The name the laboratory assigns the test. Used as the default title of the page specific to the test.
Methodology
The assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.
Clinical utility
How likely the test is to significantly improve patient outcomes. Lab-provided.
Clinical validity
How consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.
Test services
Laboratory's order or catalog code for the test (used in the order requisition form).
Signs and symptoms
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.
Cause
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.
Epidemiology
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.
History
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.
Description
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.
Causes
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.
Inheritance
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.
What is the ICD code for chromosome replacement?
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.
What is PMS mutation?
The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions.
What is 22q13 deletion syndrome?
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.
What is the ICd 10 code for deletion of chromosomes?
Other deletions of part of a chromosome 1 Q93.5 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail. 2 The 2021 edition of ICD-10-CM Q93.5 became effective on October 1, 2020. 3 This is the American ICD-10-CM version of Q93.5 - other international versions of ICD-10 Q93.5 may differ.
What are the disorders of the long arm of chromosome 15?
A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15.
Prevention
Signs and symptoms
- Most infants with PMS exhibit normal growth before birth (intrauterine growth) with normal growth after birth (postnatally). The first physical sign associated with PMS is neonatal hypotonia (low muscle tone) which may be accompanied by feeding difficulties, weak cry, and poor head control. Children also experience significant delay in reaching early developmental milestones, s…
Characteristics
- The facial features associated with PMS include long head shape (dolicocephaly), large/prominent ears, full brow, deep set eyes, long eyelashes, full or puffy eyelids, droopy eyelids (ptosis), flat midface, full or puffy cheeks, wide nasal bridge, bulbous nose, and pointed chin. Other features include relatively large hands and underdeveloped (dysplastic) toenails. Behavior …
Prognosis
- Although significant information is not available on older individuals with PMS, current data suggest that lymphedema (accumulation of fluid in the arms and legs) and cellulitis (inflammation of subcutaneous tissue due to infection) may develop during the teenage and early adult years.
Cause
- PMS is caused by the deletion or disruption of the segment of the long arm (q) of chromosome 22 that is identified as 22q13. Chromosomes are found in the nucleus of all body cells. They carry the genetic information for the growth and development of each individual. Pairs of human chromosomes include the autosomes, numbered from 1 to 22, and the se...
Nomenclature
- Because the deletion of chromosome 22 typically occurs on the distal portion of the long arm of the chromosome that is away from the center (distal), it is often referred to as a terminal deletion. In this sense, terminal refers to the end of the chromosome. It is important that families and healthcare providers understand that in this context terminal refers to the distal portion of the ch…
Epidemiology
- 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. Based on limited statistical analysis, the occurrence rate has been estimated to fall in the range of 2.5-10 …
Diagnosis
- PMS should be considered in individuals suspected of having Angelman syndrome and Rett syndrome but without the characteristic chromosomal or molecular defects associated with these syndromes. Several individuals previously classified as atypical Angelman or atypical Rett syndrome have been subsequently shown to have deletion or mutation of 22q13. Features that t…
Research
- Whole exome sequencing (WES): If chromosomal microarray analysis (CMA) has been done, but a pathogenic deletion is not identified, the next step is WES. WES detects genetic spelling errors, called variants, in genetic sequence. Some variants are benign (do not cause disease). Some variants have uncertain effects (variants of unknown significance). Other variants are known to …
Clinical significance
- Pathogenic mutations of the SHANK3 gene are associated with PMS. If a likely pathogenic variant of SHANK3 is detected, the parents should also undergo WES to determine if one of the parents carries the same variant. If the variant is present in a healthy parent, it is unlikely to be pathogenic. Indeed, pathogenic mutations in SHANK3 are de novo in the vast majority of people with PMS (t…
Treatment
- Treatment The treatment for PMS addresses the specific symptoms of each individual and typically requires the coordinated efforts of a team of specialists that may include several of the following. pediatricians, neurologists, nephrologists, gastroenterologists, immunologists, orthopedists, physical or occupational therapists, and speech/language pathologists. Cardiac ab…
Achievements
- The growth within both the PMSF and research communities has been astronomical in the past few years. PMSF has contributed to the growth through grants and fellowships, advocacy, engaging families in research initiatives, and establishing relationships with researchers and funders worldwide.
Goals
- The goal of current research is to provide families and healthcare professionals with a better understanding of the natural history of this disorder. The information obtained through various research projects is shared with the parents through quarterly newsletters, personal communications, and through scientific presentations at biennial meetings of the PMSF. Inform…
Participants
- For information on potential participation in these studies or for more general information concerning research, family support or advocacy, physicians and parents may contact:
Resources
- sue@pmsf.org Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
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