genetic diseases

Hurler syndrome is a rare genetic disease that manifests itself between 6 and 8 months of the baby and can lead to death by the age of 10. The disease is diagnosed when the first symptoms begin to appear, which involve difficulty breathing and fever. This syndrome causes the development of bone deformities, alteration of the cornea, heart problems, alteration of the bones of the face, short stature and intellectual impairment

Treatment for Prader-willi syndrome is aimed at reducing symptoms, as medical advances have not yet discovered the cure for this genetic disease. The treatment uses the following techniques and measures: Speech Therapy : This therapy allows to make some advances related to the language and the forms of communication of these individuals

Maroteaux-Lamy Syndrome or Mucopolysaccharidosis VI is a rare inherited disease, where the carriers have the following characteristics: Short, facial deformations, short neck, recurrent otitis, diseases in the airways, skeletal malformations and muscle stiffness. The disease is caused by changes in the enzyme Arylsulfatase B, which prevent it from performing its function that is to degrade polysaccharides, which in turn accumulate in the cells, developing the symptoms characteristic of the disease

Carpenter's syndrome is a rare genetic disease that is among the group of disorders of acrocephalopolisindactyly . Individuals with this syndrome are recognized by the flat skull, peculiar face, shortening of the fingers and toes, which are usually glued to one another, malformations in the forearms, extra fingers, mental retardation and motor difficulty

Lesch-Nyhan syndrome is a hereditary disease, which mainly affects men, causing mental retardation, aggressive behavior, self-mutilation like biting fingers and lips and increased production of uric acid, which results in complications such as kidney stones and gouty arthritis. At birth, children with lesch-nyhan syndrome are apparently normal, but in the first months of life they may experience episodes of vomiting and remove orange-colored crystals in the urine

The tics of the tourette syndrome are more complex than the simple blink of an eye. The most complex tics include punching and kicking, grunting and humming, and loud breathing. Early diagnosis can help parents understand that behaviors are not voluntary or malicious and that they are not controlled by punishment