genetic diseases

DiGeorge syndrome is a rare disease caused by a congenital defect in the thymus, parathyroid glands, and aorta, which can be diagnosed during pregnancy. Depending on the degree of development of the syndrome, the doctor may classify it as partial, complete, or transient. Children do not develop this disease in the same way, as this varies according to the genetic alterations of each one, however, the most common characteristics include: Bluish skin; Ears lower than normal; Small mouth, shaped like a fish mouth; Delay in growth and development; Cleft palate; Absence of thymus and parathyroid gla

Mild autism can be diagnosed at any stage of life and has no cure, but it is usually diagnosed in childhood when the child has some characteristics of autism that can be observed by family members or teachers, for example. The first symptoms of mild autism can be observed when the child, between 3 and 5 years of age, already presents difficulties in relationship, speech and interaction with others

There are a number of causes for anencephaly, but folic acid deficiency is most common before and during the first few months of pregnancy, although genetic and environmental factors can also be the cause of this important change in the central nervous system. Some less common causes of anencephaly are: use of inappropriate medications during the first month of gestation; infections; radiation; intoxication by chemical substances such as lead, for example; use of illicit drugs; genetic alterations

Anencephaly is a fetal malformation where the baby has no brain, skull, cerebellum, and meninges, which are very important structures of the central nervous system, which can lead to the death of the baby soon after birth and in some rare cases after some hours or months of life. Main causes of anencephaly Anencephaly is a serious change that can be caused by a number of factors, including the genetic load, environment, and poor nutrition of women during pregnancy, but lack of folic acid during pregnancy is the most common cause

Albinism is a hereditary genetic disease that causes the body cells not to be able to produce Melanin, a pigment that when it does not exist causes a lack of color in the skin, eyes, hair or hair. The skin of an Albino is usually white, sensitive to the sun and fragile, while the color of the eyes can range from very light blue almost transparent to brown, and this is a disease that can also appear in animals such as the orangutan, for example

Apert Syndrome is a genetic disease characterized by poor formation on the face, skull, hands and feet. The bones of the skull close early, leaving no room for the brain to develop, causing excessive pressure on it. In addition, the bones of the hands and feet are glued. Causes of Apert Syndrome Although the causes of the development of Apert syndrome are not known, it develops due to mutations during the gestation period

Alopecia areata has no cure and its treatment depends on the severity of the hair loss, but is usually done with injections and ointments that are applied to the scalp. The causes of this disease are unknown, but this disease seems to be linked to genetic factors and autoimmune diseases, such as vitiligo

The treatment for phenylketonuria consists of a diet low in phenylalanine, which is an amino acid that accumulates in the blood of phenylketonuric acid, causing problems such as mental retardation and seizures. Phenylketonuria has no cure and there are no drugs for this disease, and during treatment it is necessary to regularly monitor the phenylalanine levels in the blood

Maritime Syndrome is a disease that affects the connective tissue of the body, making individuals very tall, thin and with limbs longer than normal. Generally, this disease affects other parts of the body like eyes, skin, cardiovascular and respiratory system. The causes of Maritime Syndrome are genetic and result from a defect in a gene called fibrillin-1 that causes the ligaments, arteries, and joints to become flabby, brittle, and lose function

The epileptic crisis is when the individual presents symptoms of the disease such as losing consciousness, having seizures, intense salivation or even biting the tongue and usually epileptic seizures last from a few seconds to 5 minutes. Read more symptoms in: Symptoms of epilepsy. Epilepsy is a disease of the nervous system manifested by periods of crisis and other times when there are no seizures and can be controlled with the use of medications indicated by the neurologist, such as Diazepam

Stephen Hawking's disease is a neuromuscular dystrophy, called Amyotrophic Lateral Sclerosis (ALS), which causes symptoms such as progressive decrease in muscle strength, frequent spasms in the muscles or difficulty swallowing, for example. The amyotrophic lateral sclerosis causes the progressive destruction of the neurons responsible for the movement of the muscles, leading to progressive paralysis of all muscle groups and, therefore, the muscles become thin and small bad

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 chromosome 17 gene, called FLCN, which loses its function as a tumor suppressor and leads to the appearance of tumors in individuals.

Treatment for neurofibromatosis can be done by surgery to remove tumors that are causing pressure on the organs or reducing their volume through radiotherapy. However, there is no specific treatment to cure neurofibromatosis or to prevent the onset of new tumors. If the patient has other symptoms, such as developmental or growth problems, balance problems or bone problems, for example, it is important to be accompanied by specialized professionals, such as a physiotherapist, osteopath, speech therapist or psychologist

Pendred syndrome is a rare genetic disease characterized by deafness and enlargement of the thyroid, resulting in the appearance of goiter. This disease develops in childhood. Pendred Syndrome has no cure but there are some medications that can help regulate levels of thyroid hormones in the body or some techniques to improve hearing and language

Cockayne's syndrome is a rare hereditary disease that usually leads to death by the age of 6 years. Cockayne's syndrome is caused by genetic mutations that prevent patients from being exposed to sunlight. Upon contact with ultraviolet rays, they develop skin wounds, cataracts, dwarfism and premature aging, resulting in premature death

Treatment for Angelman syndrome consists of a combination of therapies and medications. Treatment methods include: Physiotherapy : The technique stimulates the joints and prevents stiffness, a characteristic symptom of the disease. Occupational Therapy : This therapy helps the patients with the syndrome to develop their autonomy in everyday situations, involving activities such as dressing, brushing their teeth and combing their hair

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 experience difficulty in releasing a doorknob or interrupting a handshake, for example. Myotonic dystrophy can manifest in both sexes, being more frequent in young adults

Epilepsy is a disease that affects the nervous system and it has a cure. If the patient is diagnosed early and the doctor prescribes the medication most appropriate for him and follows his guidelines correctly, the crisis may cease. Another hypothesis of treatment to cure epilepsy is to have surgery on the brain, but this is not indicated for all, before indicating it the doctor must observe the patient thoroughly

Bloom syndrome is a rare genetic disorder that is characterized by a failure in the number of chromosomes, caused by a mutation of the genes. Individuals with Bloom's syndrome have photosensitivity and deficiencies in their immune system, which increases the likelihood of developing diseases such as cancer and pneumonia

Cat-cry syndrome or Cri-du-Chat is a genetic disease caused by a change in chromosome 5. The disease has this name because the crying of the child at birth looks like a cat's meow. Babies born with cat crying syndrome have developmental delays, mental retardation, short stature, small chin, forward-projecting teeth, small jaw, coarse-looking ears, long fingers, and gastric reflux