Cohen syndrome
Cohen syndrome | |
---|---|
Other names | Pepper syndrome, Cervenka syndrome |
autosomal recessive manner. |
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare
Signs and symptoms
Patients with Cohen syndrome very frequently exhibit abnormal eyelash and eyelid morphology, teeth abnormalities, lingual aplasia or hypoplasia,
Some other frequently observed symptoms include abnormal skin pigmentation, cat cry, clinodactyly, cubitus valgus, decreased fetal movement, delayed puberty, failure to thrive during infancy, feeding difficulties during infancy, syndactyly, genu valgum, intrauterine growth retardation, joint hyperflexibility, macrodontia, narrow palm, obesity, short stature, thick hair, and a weak cry.[1]
Genetics
This syndrome is caused by pathogenic variants (
Diagnosis
Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as
]General appearance is obesity with thin/elongated arms and legs.
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.[8] Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports.[9]
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.[10] If vision is able to improve with the use of glasses, they should be worn to help facilitate concept development. Retinal degeneration cannot be ameliorated with glasses.[11]
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.[12]
Many people who have Cohen syndrome also have 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.[12]
Monitoring weight gain and growth is crucial, as well as annual ophthalmologic and hematologic evaluations and checkups.[8] While there are treatments available to people with Cohen syndrome, there are no known cures for the disease.[citation needed]
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.[citation needed]
Etymology
The syndrome is named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.[citation needed]
See also
- List of syndromes
- Characteristics of syndromic ASD conditions
References
- ^ "Cohen syndrome". Genetic and Rare Diseases Information Center. Retrieved 22 February 2023.
- PMID 12730828.
- PMID 11477603.
- PMID 30473963.
- PMID 3096139.
- PMID 10842298.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mirhosseini Holmes Walton syndrome". www.orpha.net. Retrieved 28 June 2023.
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: CS1 maint: numeric names: authors list (link) - ^ a b "Cohen syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2018-11-09.
- PMID 12676892.
- PMID 11477603.
- ^ "Cohen Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-11-09.
- ^ )