What causes Cohen syndrome?

Cohen syndrome is caused by alterations in the COH1 gene. This gene is also known as the VPS13B gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When an alteration of a gene occurs, the protein product may be faulty, inefficient, or absent.

Is there a cure for Cohen syndrome?

There is no cure for Cohen syndrome . Treatment is focused on improving or alleviating the signs and symptoms in the patient.

Is Cohen syndrome hereditary?

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What is Momo syndrome?

MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities.

What is oral facial digital syndrome?

Oral-facial-digital syndrome (OFDS) is an umbrella term for at least 10 apparently distinctive genetic disorders that are characterized by defects and flaws in the development of the structure of the oral cavity including the mouth, tongue, teeth, and jaw; the development of the facial structures including the head.

What happened to Archie Thompson Momo?

History. Archie Thompson was born in 2002 in Icklesham, England and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4 stone (56 lb; 25 kg) and by 24 months it was up to 6 stone (84 pounds; 38 kg). The condition placed a large strain on his heart and lungs.

Is Momo a disease?

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births.