Complement component 2 deficiency (often called “C2 deficiency”) is a problem in the immune system. In this condition, the body does not have enough working ...

Compartment syndrome is a serious problem that happens when pressure inside a closed space in the body (a “compartment”) becomes too high. Muscles, nerves, and ...

Sporadic hypogammaglobulinemia is a health problem where the body has low levels of protective proteins called immunoglobulins (antibodies), even though there ...

Common variable agammaglobulinemia is usually used to describe common variable immunodeficiency (CVID) – a primary immune system disease where the body makes ...

Common variable immunodeficiency (usually called CVID) is a long-term problem of the immune system. In CVID, the body does not make enough protective proteins ...

Transverse Tessier number 7 facial cleft is a birth defect where the corner of the mouth is split and stretched sideways toward the ear, so the mouth looks ...

Macrostomia is a rare birth defect of the face where the mouth opening is longer and wider than normal, usually stretching toward the ear on one or both sides. ...

Commissural facial cleft is a rare birth problem where the corner of the mouth (the “commissure”) is too wide or even open toward the cheek or ear. It is part ...

Encephalopathy due to prosaposin deficiency is an ultra-rare genetic brain disease. It is a lysosomal storage disease in the group called sphingolipidoses. In ...

Combined PSAP deficiency is a very rare inherited disease in which the body cannot make a normal protein called prosaposin, so all four helper proteins ...

Multiple pituitary hormone deficiencies (MPHD) means that the pituitary gland is not making several different hormones at the same time, not just one. The ...

Genetic hypopituitarism is a life-long condition where the pituitary gland does not make enough hormones because of changes (mutations) in important ...

Familial congenital hypopituitarism is a rare inherited condition where a child is born with a pituitary gland that does not make enough of several important ...

Combined pituitary hormone deficiency (CPHD) is a health problem where the pituitary gland does not make enough of more than one of its hormones at the same ...

Combined pancreatic lipase-colipase deficiency is a very rare inherited disease where the pancreas does not release enough of two special fat-digesting enzymes ...

Qrsl1-related combined oxidative phosphorylation defect is a very rare inherited disease that affects how the tiny “power stations” in our cells, called ...

Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect is a very rare, serious genetic disease that ...

Combined oxidative phosphorylation deficiency 40 (short name: COXPD40) is a very rare genetic disease that affects the mitochondria, the tiny “power stations” ...

Syndromic sensorineural hearing loss due to combined oxidative phosphorylation defect (COXPD) means that a child or adult has permanent inner-ear ...

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (COXPD) is a very rare genetic mitochondrial disease. In this condition, tiny ...