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 ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital afibrinogenemia is a rare inherited bleeding disorder where the body makes almost no fibrinogen, which is also called coagulation factor I. ...
Congenital adrenal insufficiency with 46,XY sex reversal (also called 46,XY disorder of sex development with adrenal insufficiency due to CYP11A1 deficiency) ...
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 ...
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, ...
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 ...
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 ...
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 ...
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 ...
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 ...
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. ...
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, ...
Progressive cone-rod dystrophy caused by mutation in GUCY2D is a rare, inherited eye disease that slowly damages the light-sensing cells (photoreceptors) in ...
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 ...
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 ...
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 ...
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 ...
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 ...
Incomplete achromatopsia is a rare, inherited eye condition where cone cells in the retina partly work but not normally. People usually have reduced vision, ...
