Congenital Analbuminemia
Congenital analbuminemia is a very rare inherited disease in which the body makes almost no normal albumin, or makes an extremely tiny amount of it. Albumin is the main protein in human blood plasma. ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Congenital Hypofibrinogenemia
Congenital hypofibrinogenemia is a rare blood problem that a person is born with. In this condition, the blood has a lower-than-normal level of a protein called fibrinogen. Fibrinogen helps the blood ...
Congenital Afibrinogenemia
Congenital afibrinogenemia is a rare inherited bleeding disorder where the body makes almost no fibrinogen, which is also called coagulation factor I. Fibrinogen is a protein in the blood that helps ...
Congenital Adrenal Insufficiency with 46, XY Sex Reversal OR 46,XY Disorder of Sex Development-Adrenal Insufficiency Due to CYP11A1 Deficiency
Congenital adrenal insufficiency with 46,XY sex reversal (also called 46,XY disorder of sex development with adrenal insufficiency due to CYP11A1 deficiency) is a rare genetic disease. In this ...
Congenital Acardia
Congenital acardia means a baby is formed inside the womb without a working heart or with almost no heart at all. This rare problem almost always happens in a special kind of twin pregnancy where ...
Complete Phocomelia of Upper Limb
Complete phocomelia of the upper limb is a birth problem where almost the whole arm is missing, and the hand is attached very close to the shoulder or chest, instead of being at the end of a normal ...
Congenital Absence of the Thigh and Leg
Congenital absence of the thigh and leg means that a baby is born with most or all of the bones of the upper leg (thigh bone or femur) and lower leg (tibia and/or fibula) missing or very under-grown. ...
Complete Phocomelia of the Lower Limb is a Birth Defect
Complete phocomelia of the lower limb is a birth defect where the thigh bone and the bones of the lower leg are completely missing, but the foot is still present and attached close to the hip or ...
Congenital Absence of Thigh and Lower Leg With Foot Present
Congenital absence of thigh and lower leg with foot present is a birth defect where the baby is born without the thigh bone (femur) and the lower leg bones (tibia and fibula), but the foot is still ...
Congenital Aplasia of the Lacrimal Gland Co-occurrent with Congenital Aplasia
Congenital aplasia of the lacrimal gland co-occurrent with congenital aplasia of the salivary glands means that a baby is born without the normal tear-making glands (lacrimal glands) and without some ...
Congenital Absence of the Salivary Gland
Congenital absence of the salivary gland means a baby is born without one or more salivary glands. Doctors also call this salivary gland aplasia or salivary gland agenesis. “Congenital” means present ...
Transverse Deficiency of the Lower Limb
Transverse deficiency of the lower limb is a birth difference where the leg grows normally up to a certain level, and everything beyond that level is missing. The leg looks as if it has been cut off, ...
Congenital Absence of Both Lower Leg and Foot
Congenital absence of both lower leg and foot means a baby is born without the lower part of both legs and without both feet. The bones below the knees (tibia, fibula, ankle bones, and foot bones) ...
Progressive Cone-Rod Dystrophy Caused by Mutation in GUCY2D
Progressive cone-rod dystrophy caused by mutation in GUCY2D is a rare, inherited eye disease that slowly damages the light-sensing cells (photoreceptors) in the retina, especially the cone cells ...
Cone-Rod Dystrophy Caused by Mutation in the PITPNM3 Gene
Cone-rod dystrophy caused by mutation in the PITPNM3 gene (sometimes called CORD5) is a rare inherited eye disease. It mainly damages cone cells in the center of the retina first, then slowly affects ...
Cone-Rod Dystrophy Type 5
Cone-rod dystrophy type 5 (often written as CORD5) is a very rare, inherited eye disease that slowly damages the light-sensing cells in the back of the eye (the retina). In this disease, the cone ...
Cone-Rod Dystrophy Type 3
Cone-rod dystrophy type 3, also called CORD3, is a rare inherited retinal disease. It mainly damages the cone cells first, and then the rod cells become damaged later. Cone cells help with sharp ...
Cone-Rod Retinal Dystrophy Type 1
Cone-rod retinal dystrophy type 1, often shortened to CORD1, is a rare inherited eye disease. It belongs to the larger cone-rod dystrophy family. In this disease, the cone cells of the retina are ...
Cone-Rod Dystrophy 1
Cone-rod dystrophy 1 (often related to changes in the CDHR1 gene) is a rare inherited eye disease. It slowly damages the cone cells (used for sharp central and colour vision) and then the rod cells ...
Incomplete Achromatopsia
Incomplete achromatopsia is a rare, inherited eye condition where cone cells in the retina partly work but not normally. People usually have reduced vision, very strong light sensitivity, ...
