genetic diseases

Early diagnosis and good adherence to treatment mean that patients with cystic fibrosis have an increased expectation, which may cause women with cystic fibrosis to have children. However, it is necessary to know the possible risks and complications of gestation in women with cystic fibrosis. It is important to have gestational planning in order to adapt the treatment in the best way, besides knowing the possible complications and the risk of the child also having the disease

Harlequin ichthyosis is a rare and serious genetic disease characterized by the thickening of the layer of keratin that forms the skin of the skin, which usually results in difficulty breathing, feeding and movement. Generally, babies born with harlequin ichthyosis die a few weeks after birth or survive at most until 3 years of age

Von Willebrand disease or VWD is a genetic and hereditary disease characterized by the decrease or absence of the production of von Willebrand factor (VWF), which plays an important role in the coagulation process. According to the amendment, von Willebrand's disease can be classified into three main types: Type 1 , where there is a partial decrease of VWF production; Type 2 , in which the factor produced is not functional; Type 3 , where there is complete von Willebrand factor deficiency

Kallman syndrome is a rare genetic disease characterized by a delay in puberty and reduced or no smell due to a deficiency in the production of gonadotrophin releasing hormone. Treatment consists of the administration of gonadotrophins and sex hormones and should be done as early as possible in order to avoid physical and psychological consequences

One of the ways to be suspicious if the child has cystic fibrosis is to observe if his sweat is saltier than normal, however the diagnosis of this disease is done through the test of the foot, which must be performed in the first month of life. In case of a positive result, the diagnosis is confirmed through the sweat test

The treatment of autism, although it does not cure this syndrome, is able to improve communication, concentration and decrease repetitive movements, thus improving the quality of life of the autistic himself and his family. For effective treatment, it is suggested that it be done with a team consisting of a physician, physiotherapist, psychotherapist, occupational therapist and speech therapist, which indicate specific therapies for each patient, and often must be done for a lifetime

The treatment for cystic fibrosis is usually done with the ingestion of medications prescribed by the physician, respiratory physiotherapy and nutritional monitoring, to control the disease and improve the quality of life of the individual. In addition, surgery can also be used to treat cystic fibrosis, in cases where there is obstruction of a canal or when respiratory complications occur, and it may be necessary for the patient to perform a lung transplant

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 by XXY, causes changes in physical and cognitive development, generating significant characteristics such as breast enlargement, lack of body hair or delayed development of the penis, for example

Dyspraxia is a condition in which the brain has difficulty planning and coordinating body movements, causing the child to be unable to maintain balance, posture, and sometimes even having difficulty speaking. In this way, these children are often considered "clumsy children, " since they often break objects, stumble and fall for no apparent reason

Cutis Laxa has no cure and its treatment is only done to treat symptoms and prevent complications. This disease may be congenital or acquired throughout life, and its diagnosis is made through the clinical evaluation of the symptoms. Cutis Laxa is a disease characterized by defects in connective tissue, a material that fills the spaces between cells, giving structure and support to the organs and tissues of the body

Autism, scientifically known as Autism Spectrum Disorder, is a syndrome characterized by problems in communication, socialization and behavior, usually diagnosed between 2 and 3 years of age. This syndrome causes the child to present some specific characteristics, such as difficulty speaking and expressing ideas and feelings, malaise among others and little visual contact, in addition to repetitive patterns and stereotyped movements, such as sitting for a long time swaying the body forward and backward

Facial skull stenosis, or craniosynostosis as it is also known, is a genetic disorder that causes the bones that make up the head to close before the expected time, causing some changes in the head and face of the baby. It may or may not be related to any syndrome and there is no intellectual impairment of the child

In order for the child with Down's syndrome to start speaking faster, the stimulation should begin immediately in the newborn through breastfeeding because it helps greatly in strengthening the muscles of the face and breathing. The strengthening of the structures used in speech, such as lips, cheeks and tongue, is fundamental because they are weakened, being one of the main characteristics of Down Syndrome, but besides breastfeeding there are other strategies that can help in the development of the child's speech

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 so in total does not have 46 chromosomes, but 47. This change in chromosome 21 causes the child to be born with specific characteristics, such as lower ear implantation, pulling eyes upwards and large tongue, for example

Gilbert syndrome, also known as constitutional hepatic dysfunction, is a genetic disease characterized by jaundice, which causes people to get yellowing of their skin and eyes. It is not considered a serious disease, nor does it trigger major health problems, and therefore, the person with the syndrome lives as much as a non-sufferer with the same quality of life

Angelman Syndrome is a genetic and neurological disease characterized by convulsions, disconnected movements, intellectual retardation, lack of speech, and excessive laughter. Children with this syndrome have a large mouth, tongue and jaw, a small forehead, and are usually blond and blue-eyed. The causes of Angelman Syndrome are genetic and are related to a problem on chromosome 15, such as in Prader-Willi Syndrome

Fragile X syndrome is a genetic disease that occurs due to a mutation in the X chromosome, leading to the occurrence of several repetitions of the CGG sequence. Because they only have an X chromosome, boys are more affected by this syndrome, presenting more characteristic signs, such as elongated face, large ears and flap, and behavioral traits similar to that of autism

Arrinia is a congenital, severe and rare condition in which the baby is born without a nose. The arrinia can be diagnosed in the prenatal examination, being recommended the realization of the child as soon as identified so that the risks for the newborn are reduced. Arrinia can be classified in: Arrinia, in which the baby is born without the nasal pyramid, ie, the nose itself; Total arrinia, which is characterized by the absence of the nose and lack of formation of the olfactory system

Ichthyosis is a genetic skin disease, also known as fish scaling disease or Ichthyosis vulgaris, which is characterized by intense dryness and scaling of the skin, especially in the trunk, legs and feet. Generally, ichthyosis is congenital, passing from parents to children, however, it is possible that the disease arises only in adulthood due to other problems, such as sarcoidosis, renal failure or hypothyroidism, and is called acquired ichthyosis

Hemochromatosis is a disease that causes excess iron in the body, which may accumulate in various organs of the body, and the onset of complications such as cirrhosis of the liver, diabetes, skin darkening, heart failure, joint pain or dysfunction of the glands, for example. This disease can be brought about in two ways: Hereditary hemochromatosis : it is the main cause of the disease, which happens due to mutations in the genes responsible for the absorption of iron in the digestive tract, which are now absorbed in great quantity; Secondary or Acquired Hemochromatosis : Iron accumulation occur