We can prevent some diseases, and can cure many. But, we can hardly do anything to avoid certain horrible inborn diseases.
Though the specific cause is not revealed, some researchers suggested Proteus syndrome is linked to Phosphatase and tensin homolog (PTEN) gene on chromosome 10, while the others say it is on chromosome 16. These children are normally born without any deformities. As they grow, tumors, skin and bone growths appear.
Symptoms: Some body parts grow less than normal and others have excess growth. Overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels are common features.
Maple Syrup Urine Disease
Maple Syrup Urine Disease is caused by a deficiency of the metabolic enzyme branched-chain α-keto acid dehydrogenase (BCKDH). As a result it leads to build up toxic by-products of branched amino acids in the blood and the urine of the patients.
Symptoms: The urine of these patients has an odor, similar to that of maple syrup. Other features include poor feeding, vomiting, hypotonia and neurological decline. If untreated they suffer from severe brain damage and finally die.
Progeria also referred to Hutchinson Gilford Progeria Syndrome. This is caused by mutations in one of the major architectural proteins of the cell nucleus.
Symptoms: Children who suffer from this disease age very quickly. The horrible features of this disease include premature baldness, acquired wrinkles, thinning bones and atherosclerosis. The sad thing is the patient will die by the age of 13 or 14.
Pretzel Syndrome is caused due to the missing of LYK5 gene. This gene is very important in signaling function and for normal organ development. Studies show that Polyhydramnios (an excess of amniotic fluid) of mothers is a leading cause of this disease.
Symptoms: Skeletal deformity, electrolyte imbalances, malformations of the brain, heart and other organs are the notable features of this disease.
Though several hypotheses are available they are not proved properly and the specific cause yet to be revealed.
Symptoms: The patients lack facial expressions due to not developed face nerves. They can neither smile nor frown. They cannot move the eyes laterally and often sleep with opened eyes. They have a great trouble in speaking, sucking and swallowing. It can be said in a word that every action that involves with face muscles and nerves is a difficult thing for them.
True Human Tail
Some Scientists suggested that this disease is caused due to a genetic mutation. Still the proper cause is not identified.
Symptoms: A vestigial tail is present in the region of sacral bone which is compound of connective tissue, muscles, blood vessels, nerves, skin etc.
Crigler-Najjar Syndrome (CNS) affects the metabolism of bilirubin. This is occurred due to non-hemolytic jaundice. CNS is two types.
Symptoms: This affects the metabolism of bilirubin. It may lead to brain damage in infants. In CNS type I serum bilirubin levels are above the normal range and jaundice appears in the first days of life and persists afterward. In CNS type II lower serum bilirubin levels are present.
True Hermaphroditism is caused by the fusion of two zygotes of different sex. It is unknown why the fusion of two zygotes takes place.
Symptoms: These children born with both ovarian and testicular tissue. There may be an ovary on one side and a testis on the other. The external genitals are ambiguous and have components of both sexes.
Glutaric Aciduria is an inherited disorder. Due to the inefficiency of the body in breaking down of the amino acids like lysine, tryptophan and hydroxylysine their intermediate products can accumulate and cause damage to brain.
Symptoms: The babies having this syndrome born with abnormally large heads. Other notable features include difficulty in moving, rigidity, muscle weakness. Mental retardation may also occur. It can damage basal ganglia and carnitine deficiency.
Hypertrichosis or Werewolf Syndrome is caused by a mutation with autosomal dominant inheritance. Yet the proper cause is unknown.
Symptoms: All the skin is covered with hair except the palms of hands and soles of feet. In some documented cases the maximum hair length is about 25 centimeters.