Genetic Disorders

Gricelli Syndrome – Causes, Diagnosis, and Treatment.

Gricelli Syndrome – Overview Gricelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe …

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Batten Disease – Causes and Treatment

Batten Disease – Definition Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell’s ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called …

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Costello Syndrome- Definition, Risk Factors and Treatment

Definition Costello Syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints Affected people may also have heart abnormalities such …

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