NAD+ oxidoreductase deficiency (FAO deficiency); fatty aldehyde dehydrogenase deficiency (FALDH deficiency); or fatty aldehyde dehydrogenase 10 deficiency (FALDH10 deficiency).
- Syndrome, Stein-Leventhal
Irregular or no periods Acne Obesity, and Excess hair growth. All women with PCO have irregular or no menses. Women with PCO do not ovulate (do not release an egg every month). Women with PCO are at a higher risk for high blood pressure, diabetes, heart disease, and uterine (endometrial) cancer. Much of this risk […]
- Syndrome, stiff baby
A genetic disorder also known as hyperekplexia in which babies have an exaggerated startle reflex (reaction). This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of hypertonia (stiffness), exaggerated startle response, strong brain-stem reflexes (especially head-retraction reflex) and, in some […]
- Syndrome, superior vena cava
The symptoms that result from compression of the large vein that carries blood down to the heart. The superior vena cava is a large vein that transmits blood from the upper body back to the heart. The superior vena cava is located in the middle of the chest and is surrounded by rigid structures and […]
- Syndrome, TAR
TAR stands for thrombocytopenia (low blood platelets) and Aplasia (absence) of the Radius (the long bone on the thumb-side of the forearm), features characterizing this syndrome. There is phocomelia (flipper-limb) with the thumbs always present. The fibula (the smaller bone in the lower leg) is often absent. The risk of bleeding from too few platelets […]
- Syndrome, tarsal tunnel
See Tarsal tunnel syndrome.