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What is Cohen syndrome and explain in detail?
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.

Signs and symptoms
Genetics
This syndrome is caused by pathogenic variants (mutations) in the VPS13B gene at chromosomal locus 8q22. It has an autosomal recessive transmission with variable expression. Variants in VSP13B also cause Mirhosseini–Holmes–Walton syndrome, which is now considered to be the same entity as Cohen syndrome

Diagnosis
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, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.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.

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. Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports.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