autosomal disorders

Cystic Fibrosis

Pulmonary infections, intestinal obstructions, salty sweat

Albinism

lack of color in skin and eyes, lacks enzyme for producing oigments of melanocytes

Sickle Cell Anemia

abnormal hemoglobin (cant do it’s job of carrying oxygen), anemic, heart failure, stroke

Tay-Sachs

starts at 6 mo, death soon after, lipid enzyme missing, causes buildup in brain

Phenylketonuria

phenylaline not cot converted to tyrosine; builds in brain, mental retardation

Galactosemia

inability to break down glucose, GI problems, retardations

Maple Syrup Urine Disease

dark, sweet smelling urine, inability to process protien

Xeroderma Pigmentosa

sensitive to UV light; skin lesions, lack enzyme to repair UV damage

Thalassemia

absense of hemoglobin production; anemia and death w/in 6 mo.

Hurlers

cannot break down sugar; lysosomes swell; puggy face; if unstreated, mental impairment, deafness, blindness and death by age 10

Alpha-1-Antitrypsin Deficiency

used in production of elastase to permit elasticity of the lungs; produced in liver

Kartagner’s syndrome

cilia cannot move, axonemal dynein genes, organs reversed, fertility issues, lung problems

Ehler- Danlos

elastic skin, loose joints

Cardiodiaphyseal Dysplasia

bony wedge over bridge of nose, facial palsym blindness/deafness: life expectancy reduced

Ectodermal Dysplasia

disorder involving two or more of the ectodermal strucutres (skin, hair, nails, teeth, mucus, sweat glands)

Meckel-Gruber Syndrome

brain developed outside of the skull, death in days

Glaucoma

elevated pressure in the eye, pressure on optic nerve reduces sight, could lead to blindness

Progeria

loss of hair, skin fat, teeth> fast aging

Lepriconism (Donohue Syndrome)

overdevelopment of pancreas, extreme diabetes; low birthwight, elfin facial features, hypertricosis, infant death

Kleeblattschadel Anomaly

cranial stenosis (bones fuse too early), clover leaf skull, prenatal death