Cohen Syndrome is an uncommon hereditary disorder caused by a recessive gene. Cohen Syndromeis characterized by childish hypotonia (a weakening of the bony muscles), childhood obesity, and several malformations.
Cohen syndrome has several characteristics such as obesity, psychological retardation and craniofacial dysmorphism. It has an autosomal recessive infection with varying manifestation Cohen syndrome has too been referred to as Pepper syndrome, Hypotonia-Obesity-Prominent Incisors syndrome, Obesity-Hypotonia syndrome, and Mirhosseini-Holmes-Walton syndrome.
Children with Cohen Syndrome have learning difficulties and a characteristic appearance. The Cohen Syndrome Support Group is a voluntary organisation which can provide a leaflet (available on receipt of a stamped addressed envelope) and a booklet for a small charge (contact the group for details). General appearance is obesity with thin/elongated arms and legs. Micrognathia, short philtrum, and high vaulted palate are common. Variable mental retardation with occasional seizure and deafness also is characteristic of Cohen syndrome. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.
Cohen syndrome is inherited in an autosomal recessive style. Each sib of a stricken person has a 25% apportunity of being affected, a 50% apportunity of being an asymptomatic carrier. Offspring of a person with Cohen syndrome are obligate heterozygotes (carriers. Prenatal examination for at-risk pregnancies and carrier examination for at-risk household members is clinically accessible once the disease-causing mutations have been identified in a stricken relative. Treatment depends on the position of the disease and the aggression of the cohen syndrome.
Early interference and physiological, occupational, and address therapy assistance speak developmental postponement, hypotonia, multilateral hyperextensibility, and machine clumsiness. Recurrent infections are treated per basic therapy; circumstance should be given to take of granulocyte-colony stimulating element (GCSF) for the handling of neutropenia. Surveillance includes yearly ophthalmologic evaluation and repetition light-colored blood cubicle counts with differential to describe sporadic neutropenia.
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