rare deseases

Tetra-amelia syndrome is a very rare genetic disease that causes the baby to be born without arms and legs, and may cause other malformations in the skeleton, face, head, heart, lungs, nervous system or genital area. This genetic change can be diagnosed even during pregnancy and therefore, depending on the severity of the identified malformations, the obstetrician may recommend performing an abortion, since many of these malformations may endanger the baby's life after birth

Renal angiomyolipoma is a rare and benign kidney tumor that usually has no symptoms until it is large enough to injure the kidney. Thus, although it is not a cancer, angiomyolipoma can be a serious problem, especially if it is larger than 4 cm, as it can impair the functioning of the kidney or cause severe bleeding

In order to control and coexist better with the familiar Mediterranean fever, which usually arises during childhood, it is recommended to consult a pediatrician, because although there is no cure, the disease can be controlled with treatment that must be done during the life so that disease crises are rare

Crouzon syndrome, also known as craniofacial dysostosis, is a rare condition where there is premature closure of the skull sutures, leading to various cranial and facial deformities. These deformities can also generate changes in other body systems such as vision, hearing or breathing, making it necessary to perform corrective surgeries throughout life

Gaucher disease is a rare genetic disease characterized by an enzymatic deficiency that causes the fatty substance in cells to become deposited in various organs of the body, such as the liver, spleen, or lung, as well as bone or bone marrow bone. Thus, depending on the affected site and other characteristics, the disease can be divided into 3 types: Gaucher disease type 1 - non-neuropathic: it is the most common form and affects both adults and children, with slow progression and possible normal life with the correct medication taking; Gaucher disease type 2 - acute neuropathic form: affects b

Charcot-Marie-Tooth disease is a neurological and degenerative disease that affects the nerves and joints of the body, causing difficulty or impossibility of walking and weakness to hold objects with the hands. Often those who have this disease need to use a wheelchair, but can live many years and have their intellectual capacity maintained

Progressive ossifying fibrodysplasia, also known as FOP, progressive ossifying myositis or stone man syndrome, is a very rare genetic disease that causes the soft tissues of the body, such as ligaments, tendons, or muscles, to slowly turn into bone, hindering body movements and causing strong changes in body image

Niemann-Pick disease consists of a group of very rare genetic syndromes that are inherited within the same family and that cause lipid accumulation in some organs such as the brain, spleen or liver, for example. Depending on the affected organs, and symptoms, Niemann-Pick disease can be divided into three main groups: Type A : is the most severe type and usually arises in the first months of life, decreasing survival to about 4 to 5 years of age; Type B : is a less severe type A that allows survival to adulthood

Adrenoleukodystrophy is a rare genetic disease linked to the X chromosome that reaches the adrenal glands, nervous system and testes. The disease affects men particularly and can manifest itself at any age. Adrenoleukodystrophy alters myelin, a protein present in the white part of the nervous system

Poor fish odor syndrome, also called trimethylaminuria, is characterized by a strong smell similar to fish in body secretions such as sweat, saliva, urine and vaginal secretions. Measures like frequent bathing, changing clothes throughout the day and using strong perfumes do not always help to improve the smell, since the treatment of this disease is done mainly through the diet, avoiding the consumption of foods like fish and eggs

Chimerism is a very rare genetic defect that occurs when a person carries more than 1 type of DNA in their body. Generally, this change does not cause symptoms, but there may be changes such as asymmetries and deformity in the body of the carrier or, in rarer cases, hermaphroditism. This situation is different from the mosaicism, in which the person may present genetic alterations, which are due to a mutation in the genetic material

Weaver syndrome is a rare genetic condition in which the child grows very fast throughout childhood, but has delays in intellectual development, as well as having characteristic facial features, such as a large forehead and wide eyes, for example. In some cases, some children may also have deformities in the joints and spine, as well as weak muscles and flaccid skin

Ohtahara syndrome is a rare type of epilepsy that usually occurs in infants less than 3 months old and is therefore also known as infantile epilepsy encephalopathy. The first seizures of this type of epilepsy usually occur during the last trimester of pregnancy, still inside the uterus, but may also occur during the first 10 days of the baby's life, being characterized by involuntary muscle contractions that leave the legs and arms rigid for some seconds

Dwarfism is a consequence of a hormonal or medical problem that causes the body to not grow and develop as it should, causing the person to have a maximum height of 1.47 m and is called a dwarf, although a person with low stature "is the most accepted expression. There are two main types of dwarfism, which include: Proportional or pituitary dwarfism : all parts of the body are smaller than normal and appear proportional to height; Disproportional or achondroplastic nerve : Some parts of the body are equal to or larger than expected, creating a sense of disproportionality for height

Richieri-Costa Pereira syndrome is an extremely rare disease that arises due to genetic alterations in the chromosome 17 of some babies, leading to the development of anomalies in the face and larynx, as well as deformations in the feet and hands. This disease was first identified in Brazil in 1992 at a USP Hospital, and to this day, only 20 children with this type of genetic mutation have been identified

Hypermensia, also known as a highly superior autobiographical memory syndrome, is a rare syndrome, and carriers are already born with it, and they forget almost nothing throughout their lives, including details such as names, dates, landscapes and faces. In order to confirm this syndrome, it is necessary to perform tests of cognition and memory, including several questions of past events

Sclerosteosis, also known as granite bone disease, is a rare genetic mutation that causes excessive bone growth. This mutation causes bones, instead of decreasing in density over the years, to become thicker and denser, becoming stronger than granite. Thus, sclerosteosis prevents the onset of bone diseases such as osteoporosis, but causes other changes, such as increased pressure inside the skull, which, if left untreated, can be life-threatening

Berardinelli-Seipe syndrome, also known as generalized congenital lipodystrophy, is a rare genetic disease characterized by malfunctioning of fat cells in the body, so that there is no normal accumulation of fat in the body, since it is stored in others such as liver and muscle. One of the main features of this syndrome is the development of severe diabetes that usually begins during puberty, around 8 to 10 years, and should be treated with a diet low in fats and sugars and with medicines that help control diabetes and high cholesterol

Hanhart syndrome is a very rare disease characterized by the complete absence of part of the arms, legs or fingers, and this condition can occur at the same time on the tongue. The causes of Hanhart's Syndrome are genetic, although the factors that lead to these changes in the individual's genes are not explained

The Williams-Beuren syndrome is a rare genetic disease whose main characteristics are very friendly, hyper-social and communicative behavior of the child, although it presents cardiac, coordination, balance, mental retardation and psychomotor problems. This syndrome affects the production of elastin, influencing the elasticity of blood vessels, lungs, intestines and skin