Genetic Diseases

How to identify early signs of mild autism

Mild autism is not a correct diagnosis used in medicine, however, it is a very popular expression, even among health professionals, to refer to a person with alterations in the autism spectrum,

What is syndactyly, possible causes and treatment

Syndactyly is a term used to describe a situation, very common, that happens when one or more fingers, of the hands or feet, are born stuck together. This alteration can be caused by genetic and

What is Marfan syndrome, symptoms and treatment

Marfan Syndrome is a genetic disease that affects the connective tissue, which is responsible for the support and elasticity of various organs in the body. People with this syndrome tend to be

Cystic fibrosis in pregnancy

Early diagnosis and a good rate of adherence to treatment makes patients with cystic fibrosis have an increased expectation, which can make women with this disease want to have children. However,

What is polydactyly, possible causes and treatment

Polydactyly is a deformity that occurs when one or more extra fingers are born in the hand or foot and can be caused by inherited genetic modifications, that is, the genes responsible for this

Epilepsy Treatment

Epilepsy treatment serves to decrease the number and intensity of epileptic seizures, since there is no cure for this disease. Treatment can be done with medication, electrostimulation and

Trivia about Siamese Twins

Siamese twins are identical twins that were born glued to each other in one or more regions of the body, such as a head, trunk or shoulders, for example, and can even share organs, such as heart,

What is Gilber's Syndrome and how is it treated

Gilbert's syndrome, also known as constitutional liver dysfunction, is a genetic disease that is characterized by jaundice, which causes people to have yellow skin and eyes. It is not considered a

What is Angelman Syndrome, Symptoms and Treatment

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

Features of Prader Willi syndrome and how to treat

Prader-Willi syndrome is a rare genetic disease that causes problems with metabolism, changes in behavior, muscle flaccidity and developmental delay. In addition, another very common feature is

What is Mucopolysaccharidosis and how is it treated

Mucopolysaccharidosis is characterized by a group of hereditary diseases that result from the absence of an enzyme, whose function is to digest a sugar called mucopolysaccharide, also known as

How Neurofibromatosis Treatment Is Done

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

How to Identify and Treat Klinefelter Syndrome

Klinefelter syndrome is a rare genetic disorder that affects only boys and arises due to the presence of an extra X chromosome in the sexual pair. This chromosomal anomaly, characterized with XXY,

Wiskott-Aldrich syndrome

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

What is Down syndrome, causes and characteristics

Down syndrome, or trisomy 21, is a genetic disease caused by a mutation in chromosome 21 that causes the carrier not to have a pair, but a trio of chromosomes, and therefore in total it does not

How to identify and treat myotonic dystrophy

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

What is Kallmann Syndrome

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

What is dyspraxia and how to treat

Dyspraxia is a condition in which the brain has difficulty planning and coordinating body movements, leading the child to be unable to maintain balance, posture and, sometimes, even having

What is Facial Skull Stenosis, Causes and Surgery

Cranial facial stenosis, or craniostenosis as it is also known, is a genetic alteration that causes the bones that make up the head to close before the expected time, generating some changes in

What is arrinia and possible causes

Arrinia is a congenital, serious and rare condition in which the baby is born without a nose. Arrhythmia can be diagnosed in the prenatal examination, and delivery is recommended as soon as it is

What is mosaicism and its main consequences

Mosaicism is the name given to a type of genetic failure during the development of the embryo inside the maternal uterus, in which the person starts to have 2 distinct genetic materials, one that

What is pseudohermaphroditism

Pseudohermaphroditism, also known as ambiguous genitalia, is an intersexual condition in which the child is born with genitals that are not evidently male or female. Although the genitals

What is and how to treat Becker muscular dystrophy

Becker muscular dystrophy is a genetic disease that causes the gradual destruction of several voluntary muscles, that is, the muscles that we can control, such as those of the hips, shoulders,

Causes of Anencephaly

There are several causes for anencephaly, but the most common is the lack of folic acid before and during the first months of pregnancy, although genetic and environmental factors can also be the

Understand what Anencephaly is and its main causes

Anencephaly is a fetal malformation, where the baby does not have a brain, skullcap, cerebellum and meninges, which are very important structures of the central nervous system, which can lead to

Better understand what Albinism is

Albinism is an inherited genetic disease that causes the body's cells not to be able to produce Melanin, a pigment that when it does not cause a lack of color in the skin, eyes, hair or hair. An

Stephen Hawking's disease

Stephen Hawking's disease is a neuromuscular dystrophy, called Amyotrophic Lateral Sclerosis or ALS, which causes symptoms such as progressive decrease in muscle strength, frequent muscle spasms

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome is a rare genetic disease that causes skin lesions, kidney tumors and cysts in the lungs. The causes of Birt-Hogg-Dubé Syndrome are mutations in a gene on chromosome

Pendred syndrome

Pendred's syndrome is a rare genetic disease that is characterized by deafness and an enlarged thyroid, resulting in the appearance of goiter. This disease develops in childhood. Pendred's

Cockayne syndrome

Cockayne's syndrome is a rare and inherited disease that usually leads children to death at around 6 years of age. Cockayne's syndrome is caused by genetic mutations that prevent patients

Epilepsy has a cure

Epilepsy is a disease that affects the nervous system and is curable. If the patient is diagnosed early and the doctor prescribes the most suitable medication for him and he follows his guidelines

Bloom syndrome

Bloom syndrome is a rare genetic disease that is characterized by a failure in the number of chromosomes, caused by a mutation of the genes. Individuals with Bloom's syndrome have

Cat Scream Syndrome

The cry of the cat syndrome or Cri-du-Chat is a genetic disease, caused by a change in chromosome 5. The disease has this name because the cry of the child at birth looks like the meow of a

Hurler syndrome

Hurler's syndrome is a rare genetic disease that manifests between 6 and 8 months of the baby and can lead to death, around 10 years of age. The disease is diagnosed when the first symptoms

Maroteaux-Lamy syndrome

Maroteaux-Lamy Syndrome or Mucopolysaccharidosis VI is a rare hereditary disease, in which patients have the following characteristics: Short, facial deformations, short

Carpenter syndrome

Carpenter syndrome is a rare genetic disease, which is among the group of acrocephalopolisindactilia disorders . Individuals with this syndrome are recognized by the flattened skull,

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is an inherited disease, which mainly affects men, causing mental retardation, aggressive behavior, self-mutilation such as biting fingers and lips and increased production of

How to help a baby with Down Syndrome sit and walk

To help a baby with Down Syndrome sit and walk faster, you should take the child to do physical therapy from the third or fourth month of life until around 5 years of age. The sessions are usually