2 Albinism- autosomal recessive trait atch?v=r4q4V2LbzD0What is it?Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.SymptomsAbsence of color in the hair, skin, or iris of the eyeLighter than normal skin and hairPatchy, missing skin color
3 Sickle Cell Anemia http://www.youtube.com/watch?v=9UpwV1tdxcs What is it?Sickle cell anemia is from a mutated gene that is inherited via a recessive allele. It is not sex-linked.SymptomsSickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. Hemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles.The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interrupt healthy blood flow.
4 Dwarfism What is it? Symptoms Dwarfism refers to abnormally short height in childhood due to the lack of growth hormone. Growth hormone is produced in the pituitary gland, located in the brain. Different hormones made in the brain tell the pituitary gland how much growth hormone is needed. Growth hormone enters the blood and stimulates the liver to produce a hormone called insulin-like growth factor (IGF-1), which plays a key role in childhood growth.Growth hormone deficiency is not sex-linkedSymptomsChildren with growth hormone deficiency:have a slow or flat rate of growth, usually less than 2 inches per year.will be much shorter than children their age.may look much younger than their agepuberty may come late or may not come at all.
5 Gigantism Symptoms What is it? Gigantism is abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed. The most common cause of too much growth hormone release is a noncancerous (benign) tumor of the pituitary gland.Gigantism is not sex-linked and the condition is extremely rare.SymptomsThe child will grow in height, as well as in the muscles and organs. This excessive growth makes the child extremely large for his or her age.Delayed pubertyLarge hands and feet with thick fingers and toesWeakness
6 Progeria Video What is it? Symptoms Fatal by age 13-20 Autosomal recessive disorderExcessive aging- name means “prematurely old”Symptoms present around months of age.SymptomsGrowth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke.Fatal by age 13-20
7 Huntington's Chorea Video What is it?Autosomal dominantNeurodegenerative disorderDiagnosed in 40’s (most have had children at this point and passed trait on)Chorea means “to dance”SymptomsCannot control movement of limbs, then body, eventually smooth musclesDeath years after diagnosisCan take meds to slow progress but not cure…LETHAL
8 Turners Syndrome http://www.youtube.com/watch?v=ldjb-FR-PKo What is it?Turner Syndrome (TS) is a chromosomal condition that exclusively affects girls and women. TS occurs when one of the two X chromosomes normally found in females is missing or incompleteSymptomsShort statureWebbed neckSwollen hands and feetInfertilityKidney problemsCongenital heart defects
9 Klinefelters Syndrome What is it?Also known as the XXY condition, Klinefelters syndrome is a chromosomal condition in which males have an extra X chromosome,.SymptomsLow testosteroneTend to have language difficultiesCan have other health issues such as increased risk for osteoporosis and autoimmune diseasesMost are infertile
10 Down Syndrome http://video.about.com/pediatrics/Down-Syndrome.htm What is it?Also known as Trisomy 21, people with Downs Syndrome have 3 copies of chromosome instead of 2SymptomsFlattened facial featuresUpward slanting eyesPoor muscle toneMild to moderate mental retardation