|
|
| Line 1: |
Line 1: |
| {{Infobox medical condition (new) | | {{Short description|A rare genetic disorder}} |
| | name = Cohen syndrome | | {{Use dmy dates|date=October 2023}} |
| | synonyms =Pepper syndrome, Cervenka syndrome
| |
| | image =Autosomal recessive - en.svg
| |
| | caption =This condition is inherited in an [[autosomal recessive]] manner.
| |
| | pronounce =
| |
| | field =
| |
| | symptoms =
| |
| | complications =
| |
| | onset = | |
| | duration =
| |
| | types =
| |
| | causes =
| |
| | risks =
| |
| | diagnosis =
| |
| | differential =
| |
| | prevention =
| |
| | treatment =
| |
| | medication =
| |
| | prognosis =
| |
| | frequency =
| |
| | deaths =
| |
| |alt=}}
| |
| '''Cohen syndrome''' (also known as '''Pepper syndrome''' or '''Cervenka syndrome''') is a very rare [[autosomal recessive]] genetic disorder with varied expression, characterised by [[obesity]], [[intellectual disability]], distinct craniofacial abnormalities and potential ocular dysfunction.
| |
|
| |
|
| == Genetics ==
| | '''Cohen syndrome''' is a rare [[genetic disorder]] characterized by a combination of features including developmental delay, intellectual disability, small head size ([[microcephaly]]), and distinctive facial features. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. |
|
| |
|
| This syndrome is believed to be a [[gene]] [[mutation]] in [[chromosome 8]] at [[Locus (genetics)|locus]] 8q22 gene ''[[COH1]]''.<ref name="pmid12730828">{{cite journal | vauthors = Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE | title = Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport | journal = American Journal of Human Genetics | volume = 72 | issue = 6 | pages = 1359–69 | date = June 2003 | pmid = 12730828 | pmc = 1180298 | doi = 10.1086/375454 }}</ref> It has an [[autosomal recessive]] transmission with variable expression.<ref name="pmid11477603">{{cite journal | vauthors = Kivitie-Kallio S, Norio R | title = Cohen syndrome: essential features, natural history, and heterogeneity | journal = American Journal of Medical Genetics | volume = 102 | issue = 2 | pages = 125–35 | date = August 2001 | pmid = 11477603 | doi = 10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0 }}</ref> There is evidence that this syndrome has a different mutation in the same gene as [[Mirhosseini–Holmes–Walton syndrome]].<ref name="pmid3096139">{{cite journal | vauthors = Norio R, Raitta C | title = Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? | journal = American Journal of Medical Genetics | volume = 25 | issue = 2 | pages = 397–8 | date = October 1986 | pmid = 3096139 | doi = 10.1002/ajmg.1320250227 }}</ref><ref name="pmid10842298">{{cite journal | vauthors = Horn D, Krebsová A, Kunze J, Reis A | title = Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity | journal = American Journal of Medical Genetics | volume = 92 | issue = 4 | pages = 285–92 | date = June 2000 | pmid = 10842298 | doi = 10.1002/(sici)1096-8628(20000605)92:4<285::aid-ajmg13>3.0.co;2-d }}</ref>
| | ==Signs and symptoms== |
| | Individuals with Cohen syndrome often present with a variety of clinical features. These may include: |
|
| |
|
| ==Diagnosis==
| | * [[Developmental delay]] and [[intellectual disability]] |
| | * [[Microcephaly]] |
| | * Distinctive facial features such as a prominent nasal bridge, thick hair, and a high-arched palate |
| | * [[Retinal dystrophy]], which can lead to vision problems |
| | * [[Neutropenia]], a condition characterized by low levels of neutrophils, a type of white blood cell |
| | * Joint hypermobility and [[scoliosis]] |
| | * [[Obesity]] in childhood |
| | * [[Hypotonia]], or decreased muscle tone |
|
| |
|
| Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as [[optic atrophy]], [[microphthalmia]], [[pigment]]ary [[chorioretinitis]], [[hemeralopia]] (decreased vision in bright light), [[myopia]], [[strabismus]], [[pathologic nystagmus|nystagmus]] and [[Iris (anatomy)|iris]]/[[retina]]l [[coloboma]]. | | ==Genetics== |
| | Cohen syndrome is caused by mutations in the [[VPS13B]] gene, also known as the COH1 gene, located on chromosome 8. This gene is responsible for producing a protein that is involved in the normal functioning of the [[Golgi apparatus]], a structure within cells that helps process and package proteins and lipids. Mutations in the VPS13B gene disrupt this process, leading to the symptoms associated with Cohen syndrome. |
|
| |
|
| General appearance is obesity with thin/elongated arms and legs. [[Micrognathia]], short [[philtrum]] and high vaulted [[palate]] are common. Variable intellectual disability with occasional [[seizure]] and [[deafness]] also is characteristic of Cohen syndrome.
| | ==Diagnosis== |
| | | Diagnosis of Cohen syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the VPS13B gene. Early diagnosis is important for managing the symptoms and providing appropriate support and interventions. |
| == Management == | |
| Some of the symptoms of Cohen syndrome can be addressed through early intervention with medical specialists. Those who have this disease may benefit from early exposure to speech, physical, and occupational therapy to correct symptoms such as joint overflexibility, developmental delays, hypotonia, and motor clumsiness.<ref name=":2">{{Cite web|url=https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome|title=Cohen syndrome | work = Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |access-date=2018-11-09}}</ref> Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports.<ref>{{cite journal | vauthors = Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J | title = Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome | journal = Journal of Medical Genetics | volume = 40 | issue = 4 | pages = 233–41 | date = April 2003 | pmid = 12676892 | doi = 10.1136/jmg.40.4.233 | pmc=1735413}}</ref>
| |
| | |
| Glasses are beneficial to those who have severe nearsightedness, whereas individuals with retinal degeneration need training for the visually impaired, which is usually more beneficial when this is addressed at a young age. Younger patients start out having unimpaired vision, but it starts to deteriorate at a young age and does so slowly.<ref>{{cite journal | vauthors = Kivitie-Kallio S, Norio R | title = Cohen syndrome: essential features, natural history, and heterogeneity | journal = American Journal of Medical Genetics | volume = 102 | issue = 2 | pages = 125–35 | date = August 2001 | pmid = 11477603 | doi = 10.1002/1096-8628(20010801)102:2<125::aid-ajmg1439>3.0.co;2-0 }}</ref> If vision is able to improve with the use of glasses, it usually improves cognitive skills as well.<ref>{{Cite news|url=https://rarediseases.org/rare-diseases/cohen-syndrome/|title=Cohen Syndrome - NORD (National Organization for Rare Disorders)|work=NORD (National Organization for Rare Disorders)|access-date=2018-11-09 }}</ref>
| |
| | |
| The type of therapy needed for each individual varies, as not every affected individual would benefit from speech, physical, and occupational therapies. The type of therapy for each person is highly individualized. Individuals who have Cohen syndrome may also benefit from psychosocial support.<ref name = "Wang_1993">{{cite journal | vauthors = Wang H, Falk MJ, Wensel C, Traboulsi E | title = Cohen Syndrome | date = 1993 | pmid = 20301655 | url = https://www.ncbi.nlm.nih.gov/books/NBK1482/ | access-date = 2018-11-10 | publisher = University of Washington, Seattle | veditors = Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A }}</ref>
| |
| | |
| Many people who have Cohen syndrome also suffer from neutropenia which is a condition in which an individual has an abnormally low number of white blood cells called neutrophils. Having this condition may make these individuals susceptible to infections. Granulocyte-colony stimulating factor (G-CSF) is one possible treatment for neutropenia.<ref name = "Wang_1993" />
| |
| | |
| Monitoring weight gain and growth is crucial, as well as annual ophthalmologic and hematologic evaluations and checkups.<ref name=":2" /> While there are treatments available to people with Cohen syndrome, there are no known cures for the disease.
| |
| | |
| ==Prevalence==
| |
| | |
| | |
| Over the past several years, there have been approximately 50 new cases worldwide. There are population groups with this condition in Australia, New Zealand, the UK and the US. It still seems to go undiagnosed, leaving the number of known cases less than 500.
| |
| | |
| == Etymology ==
| |
| The syndrome is named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
| |
|
| |
|
| == References == | | ==Management== |
| {{reflist}}
| | There is no cure for Cohen syndrome, and treatment is focused on managing the symptoms and improving quality of life. This may include: |
|
| |
|
| == External links ==
| | * Regular monitoring and management of vision problems |
| {{Medical resources
| | * Supportive therapies such as [[physical therapy]], [[occupational therapy]], and [[speech therapy]] |
| | DiseasesDB = 29622
| | * Monitoring and treatment of neutropenia to prevent infections |
| | ICD10 =
| | * Educational support and interventions for developmental delays and intellectual disability |
| | ICD9 =
| |
| | ICDO =
| |
| | OMIM = 216550
| |
| | MedlinePlus =
| |
| | eMedicineSubj =
| |
| | eMedicineTopic =
| |
| | MeshID =
| |
| | GeneReviewsNBK = NBK1482
| |
| | GeneReviewsName = Cohen Syndrome
| |
| | Orphanet = 193
| |
| | SNOMED CT = 56604005
| |
| }}
| |
| *[https://www.ncbi.nlm.nih.gov/books/NBK1482/ GeneReview/NIH/UW entry on Cohen syndrome] | |
|
| |
|
| {{Inherited disorders of trafficking}}
| | ==Prognosis== |
| | The prognosis for individuals with Cohen syndrome varies depending on the severity of symptoms and the presence of complications. With appropriate management and support, many individuals can lead fulfilling lives. |
|
| |
|
| [[Category:Inherited disorders of trafficking]]
| | ==Related pages== |
| [[Category:Syndromes with mental retardation]] | | * [[Genetic disorder]] |
| [[Category:Syndromes with obesity]] | | * [[Intellectual disability]] |
| [[Category:Syndromes with craniofacial abnormalities]] | | * [[Microcephaly]] |
| [[Category:Rare syndromes]] | | * [[Retinal dystrophy]] |
| {{dictionary-stub1}}
| |
|
| |
|
| <gallery>
| | [[Category:Genetic disorders]] |
| File:Autosomal recessive - en.svg|Cohen syndrome
| | [[Category:Rare diseases]] |
| </gallery>
| |
A rare genetic disorder
Cohen syndrome is a rare genetic disorder characterized by a combination of features including developmental delay, intellectual disability, small head size (microcephaly), and distinctive facial features. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Signs and symptoms
Individuals with Cohen syndrome often present with a variety of clinical features. These may include:
Genetics
Cohen syndrome is caused by mutations in the VPS13B gene, also known as the COH1 gene, located on chromosome 8. This gene is responsible for producing a protein that is involved in the normal functioning of the Golgi apparatus, a structure within cells that helps process and package proteins and lipids. Mutations in the VPS13B gene disrupt this process, leading to the symptoms associated with Cohen syndrome.
Diagnosis
Diagnosis of Cohen syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the VPS13B gene. Early diagnosis is important for managing the symptoms and providing appropriate support and interventions.
Management
There is no cure for Cohen syndrome, and treatment is focused on managing the symptoms and improving quality of life. This may include:
- Regular monitoring and management of vision problems
- Supportive therapies such as physical therapy, occupational therapy, and speech therapy
- Monitoring and treatment of neutropenia to prevent infections
- Educational support and interventions for developmental delays and intellectual disability
Prognosis
The prognosis for individuals with Cohen syndrome varies depending on the severity of symptoms and the presence of complications. With appropriate management and support, many individuals can lead fulfilling lives.
Related pages
