disease-genetics

Down syndrome is a genetic disorder characterized by the presence of an extra chromosome, which causes the child to be born with specific characteristics, such as short stature, eyes pulled up and large, heavy tongue, for example. Find out more

The treatment for epilepsy should be indicated by the neurologist according to the frequency and intensity of the attacks, and the use of medications or electrostimulation, for example, may be recommended. See more details of the treatment for epilepsy

What it is: Angelman Syndrome is a genetic and neurological disease that is characterized by seizures, disconnected movements, intellectual retardation, absence of speech and excessive laughter. Children with this syndrome have a large mouth, tongue and jaw

Klinefelter syndrome is a rare genetic disorder that affects boys and can cause physical characteristics such as breast enlargement and high-pitched voice.

Hemochromatosis is a disease characterized by excess iron in the body, which deposits in the organs and can cause symptoms such as fatigue, body pain, cirrhosis and cardiac changes, for example. Understand what is hemochromatosis, symptoms and how

Mosaicism is a type of genetic failure, in which the person carries 2 genetic materials in his body. Understand how it happens and the diseases it causes

Physiotherapist indicates exercises that can be done to help a child with Down Syndrome to hold the head, roll, stand and walk.

Prader-Willi syndrome is a rare genetic disorder that causes behavioral changes, developmental delay and excessive hunger.

Fragile X syndrome is a genetic disease caused by a mutation in the X chromosome that occurs more frequently in boys, generating characteristics such as an elongated face and large ears. Learn more about the syndrome, its characteristics and treatment

Von Willebrand's disease is a genetic disease characterized by deficiency in a clotting factor, resulting in bleeding and increased menstrual flow, for example. Understand what Von Willebrand's disease is, symptoms and how treatment is done

Polydactyly is a deformity that occurs when one or more extra fingers are born in the hand or foot and can be diagnosed when the baby is forming during pregnancy. It can be caused by genetic changes transmitted from father to son. Find out more