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 ...

Congenital afibrinogenemia is a rare inherited bleeding disorder where the body makes almost no fibrinogen, which is also called coagulation factor I. ...

XY sex reversal–adrenal failure syndrome is a very rare genetic disease where a baby has male chromosomes (46,XY) but the body does not develop typical male ...

Congenital adrenal insufficiency with 46,XY sex reversal (also called 46,XY disorder of sex development with adrenal insufficiency due to CYP11A1 deficiency) ...

Congenital adrenal hyperplasia due to apparent combined P450c17 and P450c21 deficiency is a very rare genetic disease that affects how the adrenal glands make ...

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare inherited disease that affects how the body makes important steroid ...

Congenital adrenogenital syndrome is another name for congenital adrenal hyperplasia (CAH). It is a group of genetic (inborn) disorders where the adrenal ...

Congenital adrenal hyperplasia, often called CAH, is a group of genetic problems that affect the adrenal glands. These are two tiny glands that sit on top of ...

Congenital absence of the optic chiasma, also called congenital achiasma, is a very rare birth problem where the normal “crossing point” of the optic nerves ...

Congenital achiasma is a very rare eye and brain problem that is present from birth. It happens when the optic chiasm, the “cross-road” where nerve fibers from ...

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 ...

Humero-radio-ulnar intercalary transverse meromelia is a rare birth defect of the arm. In this condition the upper arm bone (humerus) and the two forearm bones ...

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 upper arm and forearm with the hand still present is a rare birth difference where the baby is born without the long bones of the arm ...

Femorotibiofibular intercalary transverse meromelia is a very rare birth problem where the middle parts of the thigh and leg bones are missing or very ...

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 lacrimal puncta and salivary glands means that a baby is born without the tiny tear drainage openings on the eyelids (lacrimal puncta) ...