genetic diseases

Achondroplasia is a type of dwarfism, which is caused by a genetic alteration and causes the individual to have a lower stature than normal, accompanied by limbs and trunk with disproportionate size, with arched legs. In addition, adults with this genetic disorder also have small, broad hands with short fingers, increased head size, very specific face features with prominent forehead and flattened eye region, and difficulty in stretching arms

After learning that the baby has Down Syndrome, parents should calm down and get as much information about Down Syndrome as possible, what are their characteristics, what are the health problems that the baby may face and what are the possibilities of treatments that can help promote autonomy and improve the quality of life of your child

Patau's syndrome is a rare genetic disease that causes malformations in the nervous system, heart defects and cleft in the lip and the sky of the baby's mouth, and can be discovered during pregnancy through diagnostic tests such as amniocentesis and ultrasound. Normally, babies with this disease survive less than 3 days on average, but there are cases of survival up to 10 years of age, depending on the severity of the syndrome

Turner syndrome or gonadal dysgenesis is a genetic disease that affects only girls and is characterized by the total or partial absence of one of the two X chromosomes. Symptoms of Turner's Syndrome Symptoms of Turner syndrome include an increase in the volume of the back of the hands and feet and edema or flaccid folds of the skin on the back of the neck

Neurofibromatosis, also known as Von Recklinghausen's disease, is a hereditary disease that manifests itself around the age of 15 and causes abnormal growth of nervous tissue in the body, forming small external tumors, called neurofibromas. Neurofibromatosis is usually benign and can be divided into two groups: Neurofibromatosis type 1: caused by mutations in chromosome 17 that reduce the production of neurofibromin, a protein used by the body to prevent the onset of tumors

Menkes disease is a genetic disease characterized by a lack of copper in the body due to intestinal malabsorption, which causes a number of problems that prevent the child's normal motor development. The disease leads to hypotonia, muscle weakness, seizures, hair does not grow normally thin, thin and weak or curly and coiled

Tourette's syndrome is a neurological disease that causes impulsive, frequent and repeated acts, also known as tics, that can make life difficult for the person and his family due to embarrassing situations. Tourette Syndrome tics usually appear from 7 to 11 years of age with simple motor tics, such as blinking of the eyes or movements of hands or arms, which then worsen, with repeated words, sudden movements and sounds like barking, grunting, shouting or swearing, for example

Mosaicism is the name given to a type of genetic defect during the development of the embryo inside the maternal uterus, in which the person happens to have 2 distinct genetic materials, one that is formed by the union of the ovum with the spermatozoon of the parents, and another that arises due to a mutation of a cell in the course of the development of the embryo

The cat's eye syndrome is a type of malformation of the eye, known as a coloboma, which causes the middle layer of the eye, called the uvea, to not exist or be altered. This affects the structure that sustains the iris and, therefore, its shape changes, being similar to that of a cat, but the ability to see is almost always maintained

Color blindness, also known as dyschromatopsia, is a change in vision, in which the individual is unable to differentiate all or some of the colors, especially the green of red. Generally, the transmission of color blindness is genetic, but it can also arise due to lesions in the structures of the eyes or the neurons responsible for the vision and is very rare in women and frequent in men, because it is associated with the X chromosome

Prader-Willi syndrome is a rare genetic disorder that causes problems with metabolism, behavioral changes, muscle flaccidity, and developmental delay. In addition, another very common feature is the emergence of excessive hunger after two years of age, which can end up leading to the emergence of obesity and diabetes

Pseudohermaphroditism, also known as ambiguous genitalia, is an intersexual condition in which the child is born with genital organs that are not evidently male or female. Although the genitals can be difficult to identify as being a girl or a boy, there is usually only one type that produces sex cells, ie there are only ovaries or testicles

Amniotic band syndrome, also known as amniotic flutter syndrome, is a very rare condition in which pieces of a tissue similar to the amniotic sac wrap around the arms, legs or other sites of the fetal body during gestation, forming a band . When this happens, the blood can not reach correctly in these places and, therefore, the baby can be born with malformations or with lack of fingers and, even without full members, depending on where the amniotic band formed

Wiskott-Aldrich syndrome is a genetic disease that compromises the immune system involving T and B lymphocytes and the blood cells that help control bleeding, platelets. Symptoms of Wiskott-Aldrich Syndrome Symptoms of Wiskott-Aldrich syndrome include: Decreased number of platelets, causing frequent bleeding; Diarrhea with blood; Nasal and gingival bleeds; Successive infections, such as otitis, pneumonia and Dark spots on the skin, known as eczema

To help the baby with Down Syndrome sit down and walk faster, one should take the child to physical therapy from the third or fourth month of life until about five years of age. The sessions are usually held 2 to 3 times a week and there are several exercises disguised as games that have the purpose of early stimulation of the child so that he can hold his head, roll, sit, stand and walk faster

Treatment for epilepsy serves to decrease the number and severity of seizures, as there is no cure for epilepsy. The treatment can be done with medication, electro-stimulation and even with surgery to the brain and, therefore, the best form of treatment must always be evaluated with a neurologist, according to the intensity of the crises of each patient, for example

Edwards Syndrome, also known as trisomy 18, is a very rare genetic disorder that causes delays in the development of the fetus, resulting in severe malformations such as microcephaly and heart problems, which can not be corrected and, therefore, there is a low expectation of life. Generally, Edwards Syndrome is more frequent in pregnancies in which the pregnant woman is more than 35 years old

Siamese twins are identical twins who were born bonded to one another in one or several regions of the body such as head, trunk, shoulders, or back, for example. In addition, there may also be organs that are used in common by the Siamese, such as lung, heart, or brain, for example. Siamese twins occur when an ovum is fertilized twice, not separating properly into two

Becker's Muscular Dystrophy is a genetic disease that causes the gradual destruction of several voluntary muscles, that is, the muscles we can control, such as those of the hip, shoulders, legs or arms, for example. It is usually more common in men and the first symptoms appear in childhood or during adolescence, starting with a slight and gradual loss of strength in almost all muscles of the body, but especially in the shoulders and hip

Cleo-Cranial Dysplasia is a very rare genetic disorder in which there is a delay in the development of skull bones and the child's shoulder region. The main features of this type of dysplasia include: Delay in closure of the molleiras in the baby; Chin and forehead protruding; Very broad nose; Shorter or absent clavicles; Narrow shoulders and very flexible; Late growth of teeth