disease-genetics

Find out what tests are needed, how is food, school, development, and other common questions about the person with Down Syndrome.

"Mild autism " is an expression used to describe a person who has some changes in the autism spectrum, but who can do almost all daily activities. Understand which signs may indicate the presence of mild autism

Alopecia areata corresponds to circular hair loss that occurs mainly on the scalp. It is possible that the hair will grow back in place as long as the correct treatment under the guidance of the dermatologist is done. Understand what

Gilbert's Syndrome is a genetic disease characterized by the presence of a mutation in the enzyme responsible for the degradation of bilirubin, which leads to its accumulation in the blood and gives the skin and eyes a yellowish appearance. Understand more about what

The treatment of autism is able to improve communication, concentration and decrease repetitive movements, thus improving the quality of life of the autistic person. Pediatrician explains the main forms of treatment used and how to care for the autistic child

Neurofibromatosis is a rare disease that manifests itself around the age of 15 and that causes the appearance of small nodules on the skin. Understand what neurofibromatosis is, why it happens and how treatment can be done

Autism is a syndrome characterized by problems in communication, socialization and behavior, usually diagnosed between 2 and 3 years of age. Understand better what autism is, its symptoms, possible causes and treatment

Dyspraxia is a condition that causes difficulty in planning and coordinating body movements. It occurs in children but can also affect adults.

Pseudohermaphroditism, also known as ambiguous genitalia, is a condition in which the child is born with genitals that are not evidently male or female. See how to identify the main characteristics in boys, girls

Albinism is caused by a genetic mutation, which causes a lack of color in the skin, eyes or hair. See what causes this disease and what precautions to take

Neurofibromatosis has no cure, so it is recommended to monitor the patient and perform annual exams to assess the progression of the disease and the risk of complications. In some cases, neurofibromatosis can be treated by surgery

Cystic fibrosis in the baby can be identified by assessing the signs and symptoms presented and the results of laboratory tests. Understand how to know if it is cystic fibrosis, what the symptoms are and how the treatment should be done

Kallman's syndrome is a rare genetic disease that is characterized by a delay in puberty and a reduction or absence of smell, due to a deficiency in the production of gonadotropin-releasing hormone. See what causes and symptoms and how it 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

Find out what exercises parents can do at home to help a baby with Down Syndrome speak.

What it is: Wiskott-Aldrich syndrome is a genetic disease, which compromises the immune system involving T and B lymphocytes, and blood cells that help control bleeding, platelets. Symptoms of Wiskott-Aldrich Syndrome Symptoms

Cranial facial stenosis is a genetic alteration that causes the bones of the head to close before the expected time, generating some changes in the baby's head and face, which will require some surgery during childhood.

Myotonic dystrophy is a genetic disease also known as Steinert's disease, characterized by the difficulty in relaxing the muscles after a contraction. Some individuals with this disease find it difficult to loosen a doorknob or interrupt a

Patau syndrome is a genetic disease characterized by trisomy of chromosome 13, which causes malformations in the baby. Learn more about Patau syndrome, main characteristics, how the diagnosis is made and how the treatment is done

This is a very rare condition, but it can happen in any pregnancy, leading to the lack of limbs and other malformations in the baby.