COMMON GENETIC DISORDERS IN HUMANS
The following are some of the more common and/or well known genetic disorders in humans. There are in
fact hundreds that have been identified. Chromosomal disorders are the result of errors in meiosis, and
therefore are not inherited through the generations. The others are inherited.
Chromosome disorders
Down syndrome
Turner’s syndrome
Klinefelter’s syndrome
(3 copies of chromosome 21)
(female with only one X)
(male with extra X - XXY)
Dominant genetic disorders
Huntington’s disease
Polydactyly
Marfan Syndrome
Woody Guthrie died from it
Recessive genetic disorders
Abraham Lincoln had this
Sickle cell anemia
From Africa
Tay-Sachs
Eastern European Jews
Cystic Fibrosis
Western Europe
PKU
Albinism
Achondroplasia (Dwarfism)
Note: Hundreds of recessive genetic disorders have been identified, and their origins are relatively
easy to locate. Geographical and cultural reproductive isolation will always result in the mating of
individuals with shared ancestry - inbreeding.
Sex-linked genetic disorders
Hemophilia
Multiple origins
Red-green color blindness
Duchenne muscular dystrophy
Genetic predisposition
Cleft lip/palate
Clubfoot
Spina Bifida
Hydrocephalus
Hypertension
High Cholesterol
Mental Illness
Congenital heart defects
Diabetes mellitus…………Many,many,more ...
Note: Genetic predisposing factors are not a guarantee that a person will have a medical condition to
which they are genetically predisposed. Conditions such as these tend to run in families, but are strongly
influenced by environment ( diet, lifestyle, and behavior) - and luck (good or bad).