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Genetic disorders - ANSWER ✓ Considered to be medical conditions caused by
mutations in a single gene or a set of genes
Ablinism - ANSWER ✓ A congenital but non-pathological disorder. A recessive
gene mutation causes hereditary lack of pigment in the skin, hair, and eyes
Attention-deficit/hyperactivity disorder(ADHD) - ANSWER ✓ It is characterized
by the person having difficulty focusing attention and organizing and completing
tasks
Cleft palate - ANSWER ✓ Congenital defect in the roof of the mouth that occurs
when the palatine bones of the skill do not close properly
Color deficiency - ANSWER ✓ Disorder called color blindness. Female carriers
that affect their son
Down syndrome (Trisomy 21) - ANSWER ✓ Disorder caused by an extra
chromosome present at the 21st chromosome pair
Cystic fibrosis - ANSWER ✓ Chronic and progressive disorder diagnosed in
childhood. Mucus is thick, dry and sticky. Therefore clogging the lungs. Child
doesn't live past 20 years old. Sweat test is done.
Fragile X syndrome - ANSWER ✓ Affects females. Also know as Martin-Bell
syndrome, Marker X, and FRAXA. Common form of mental retardation
, Hemochromatosis - ANSWER ✓ Inherited disorder of excessive accumulation of
iron. See it earlier in females than males
Hemophilia - ANSWER ✓ Hereditary. Sex-linked disorder which the blood
coagulation time is greatly increased. Female carrier to son
Klinefelter's syndrome - ANSWER ✓ Congenital endocrine disorder affecting
males. Small and firm testes, small penis, tall stature, weak bones, low energy
levels, and excessive breast tissue which is termed gynecomastia
Muscular dystrophy - ANSWER ✓ Genetic disorder characterized by a gradual
atrophy and weakening of the muscle
Phenylketonuria (PKU) - ANSWER ✓ Caused by a recessive gene mutation.
Results in mental retardation
Sickle cell anemia - ANSWER ✓ Hereditary. Chronic form of anemia caused by a
recessive gene mutation. Also known as Hemoglobin SS disease. Most common in
African and Mediterranean descent
Spina bifida - ANSWER ✓ Congenital neural tube defect. Develops when the
vertebrae in the spine do not form correctly around the spinal cord
Talipes - ANSWER ✓ Clubfoot. Congenital deformity of the foot
Tay-sachs disease (TSD) - ANSWER ✓ Inherited disorder that tends to affect
people of central and northern European Jewish (Ashkenazi) or French-Canadian
ancestry. Targets the nervous system
Turner syndrome - ANSWER ✓ Congenital disorder caused by all or part of one
of the X chromosomes becoming lost either before or immediately after conception
Endoplasmic reticulum - ANSWER ✓ Tubular network that is attached to the
nuclear membrane. Bumpy appearance smooth ER doesn't have ribosomes
Ribosomes - ANSWER ✓ Production of protein that is essential to the vitality of
the cell