NMS2 Heritable Genetic Disorders

Question 1

An inherited disease which affects connective tissue. Signs would include a tall, skinny person with long extremities, cardiac problems, vision problems, pectus excavatum, to name a few

Answer 1

Marfan Syndrome

Question 2

Homocystinuria is a disorder of ____ metabolism, leading to an abnormal amount of homocysteine and it’s metabolites in the blood and urine.

Answer 2

Methionine

Question 3

An increased homocysteine level would put a person at a higher risk for ____

Answer 3

Strokes

Question 4

A group of connective tissue disorders that can be inherited and are generally characterized by hypermobility of joints, hyperextensibility of skin, and tissue fragility. They are currently classified into 13 subtypes.

Answer 4

Ehlers-Danlos Syndrome(s)

Question 5

A common cause of dwarfism

Answer 5

Achondroplasia

Question 6

A genetic disorder in which a person has too little or poor quality type I collagen, which affects the body’s ability to make strong bones. (Brittle bone disease?) “Blue Sclera” is a sign.

Answer 6

Osteogenesis Imperfecta

Question 7

A group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans. Physical symptoms include rough facial features (flat nasal bridge, thick lips, enlarged mouth and tongue) short stature w/disproportionately short trunk

Answer 7

Mucopolysaccharidosis

Question 8

A rare genetic disease that causes benign tumors to grow in many parts of the body

Answer 8

Tuberous Sclerosis

Question 9

An inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems w/vision and hearing. Very short trunk, neck, limbs; hands and feet are usually average-sized. Severe nearsightedness is common. About 1/4 of people have hearing loss.

Answer 9

Spondyloepiphyseal Dysplasia