Cohen Syndrome is a genetic disorder affecting many parts of our body and characterized by intellectual disability, weak muscle tone, obesity, small head size and developmental delay.This condition uses an autosomal recessive pattern to get inherited, that is, both the gene copies in each cell will have mutations.
Other characteristic facial features include long eyelashes, bulbous nasal tip, prominent front tooth, thick hair and thick eyebrows . The features of this syndrome vary between individuals. Obesity is developed around the torso but the legs and arms remain slender.
Symptoms of Cohen Syndrome
- Obesity of body trunk (it starts in mid-childhood)
- Postnatal growth deficiency
- Low birth weight
- Reduced muscle tone leading to weakness
- Mental deficiency
- High nasal bridge
- Open mouth due to prominent upper tooth and philtrum
- Chorioretinal dystrophy
- Reduced visual field
- Pigmentary deposits
Causes of Cohen Syndrome
- Cohen syndrome is caused by the mutations in VPS13B gene, also known as COH1 gene
- The exact function of the proteins developed from the VPS13B gene are not clear; however, researchers say that it is involved in transporting and sorting the proteins inside the cells.
Often researchers study about other related medical conditions to know more about the causes of Cohen syndrome, these medical conditions include
- Pepper syndrome obesity
- Mental retardation
- Microphthaimia
- Optic atrophy
- Pigmentary chorioretinitis
- Retinal coloboma
Treatment for Cohen Syndrome
- Diagnosis is entirely based on clinical examinations, but in Cohen syndrome, establishing a phenotype using a strict clinical criteria will be extremely difficult
- This happens because, in this process we observe a wide variety in manifestations, and it is possible that all of them may not correspond to the same process
- Other processes include Differential diagnosis, Clinical manifestations, Etiology and Pathogensis
