Genetic Diseases

Maple Syrup Urine Disease• Maple syrup urine disease is an inherited disorder in which the

body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

• This condition is inherited in an autosomal recessive pattern

Turners Syndrome• Turner syndrome is a

chromosomal condition that affects development in females. Many affected girls do not undergo puberty and most are unable to conceive (infertile).

• Females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems

• Turner syndrome is related to the X chromosome; when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered.

Downs Syndrome• Most cases of Down

syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.

• Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

Kleinfelter’s Syndrome• Klinefelter syndrome is a genetic

condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males.

• Klinefelter syndrome adversely affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

• Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm.

Progeria• Progeria (pro-JEER-e-uh), also known

as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.

• Children with progeria generally appear normal at birth

• Heart problems or strokes are the eventual cause of death in most children with progeria.

• The average life expectancy for a child with progeria is about 13 years, but some with the disease die younger and some live 20 years or longer.

• Unlike many genetic mutations, progeria isn't passed down in families. Researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child's genes are new

Cri Du Chat• Cri-du-chat (cat's cry) syndrome,

is a chromosomal condition that results when a piece of chromosome 5 is missing.

• Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy.

• Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

PKU• Classical PKU is caused by a deficiency of an

enzyme called phenylalanine hydroxylase(PAH). This enzyme is to break down excess phenylalanine from food. It is necessary part of the human diet.

• If there is not enough enzyme then excess phenylalanine from the protein in foods builds up in the blood, affecting brain development and function.

• Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems.

• The best proven treatment for classical PKU patients is a strict diet supplemented by a medical formula containing amino acids and other nutrients.

• For a child to inherit PKU, both of his or her parents must have at least one mutated allele

• PAH gene is located on chromosome 12

Jacobs Syndrome• Jacobs Syndrome is a genetic

condition in which a human male has an extra male (Y) chromosome,

• Most boys born with the extra Y have a normal sex development and no problems with fertility when they mature.

• The most prevalent symptoms associated with Jacob’s syndrome are delayed emotional development and learning problems in school.

• Males who have this syndrome may have higher than normal levels of testosterone.

• Some other common symptoms are immaturity, acne, swollen joints, arthritis, joint stiffness, impaired joint mobility and chest pain. Boys with this syndrome are usually very tall.