The Von Hippel-Lindau Syndrome

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears.

not be detected until later in life. This disease puts restrictions on exercise and the proper

This disease is noticeable by the age of 6 to 12 months. Parental DNA pattern test is a test

This syndrome is diagnosed because of a few different factors. It is diagnosed when one has multiple tumors in the brain, spinal cord, or eye. Even if one

a. What is the genetic cause of the disorder? Be specific. (e.g., an extra chromosome

Sturge-Weber syndrome is also called "encephalotrigeminal angiomatosis." It is a congenital disorder. It causes a vascular birthmark and neurological abnormalities.

A child with this disorder can suffer from a number of symptoms. The mutation cause symptoms like weak muscle tone, delayed motor skill developed, and delayed or absence of puberty. Only male persons can have this disorder and are more likely to have severe cryptic acne during adolescence. A male

name of the disease is simple enough for me to pronounce, the spectrum by which individuals

People with the genetic condition have distinctive facial features, experience sleep problems, feeding issues, growth and developmental delays. The 5-year-old also has branch pulmonary stenosis, which is a heart condition.

Signs and symptoms include muscle spasms, epilepsy, intellectual disability, hypotonia, microcephaly, microopthalmia, colobomas (incomplete development of the retina and optic nerve), musculoskeletal abnormalities (“Aicardi syndrome - NORD (national organization for rare disorders),” n.d.), Hypertonia

Those with a mutated gene have significantly increased risk of developing hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, eye which are called retinal angiomas, clear cell renal cell carcinoma, which is a specific type of kidney cancer; and pheochromocytoma, which is a tumor of the adrenal gland. Kidney cysts, which are closed sacs usually filled with fluid; pancreatic cysts, epididymal cystadenomas, and endolymphatic sac tumors, which are tumors of the ear that may cause hearing loss; are also features of VHL [1].

Von Hippel-Lindau Syndrome is a genetic disorder. It is a hereditary condition which is associated with hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eyes. Some of the symptoms of Von Hippel-Lindau Syndrome (VHL) can be increased risks of kidney cancer and even blood vessel tumors of the brain, spinal cord, and eyes.

Foremost, if anyone else, including our family, has this genetic mutation would show these symptoms:

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects