Lissencephaly type 2 is a very rare brain problem that starts before birth. In this condition, the baby’s brain surface does not form normal folds and grooves. ...

Cobblestone lissencephaly is a rare brain malformation where the surface of the brain looks bumpy and uneven, like small stones on a road. In this condition, ...

Spinal arteriovenous metameric syndrome (SAMS) is a very rare birth-time (congenital) blood vessel problem that affects one body segment of the spine and the ...

Cutaneomeningospinal angiomatosis is another name for Cobb syndrome. It is a very rare condition where a person has abnormal blood vessels (angiomas or ...

Cobb syndrome is a very rare condition where a child or adult has abnormal blood vessels in the skin and in the spine in the same body segment (metamere). ...

Cerebroretinal microangiopathy with calcifications and cysts is a very rare inherited disease that mainly damages the tiny blood vessels in the brain and the ...

Cerebroretinal microangiopathy with calcifications and cysts (often shortened to CRMCC) is a very rare inherited disorder that mainly affects the brain and the ...

Coats plus syndrome is a very rare, inherited, multi-system disease where tiny blood vessels (especially in the retina of the eye and the brain) are abnormal ...

Narrowing of the aorta usually means a condition called coarctation of the aorta. In this problem, a short part of the main body artery (the aorta) becomes ...

Coarctation of the aorta is a birth heart problem where a short part of the main body artery (the aorta) is too narrow, like a tight ring on a pipe. This ...

Joubert syndrome with hepatic defect is a very rare, genetic disease. It mainly affects the brain and the liver. In this condition, the part of the brain ...

Joubert syndrome with congenital hepatic fibrosis is a rare genetic condition that affects both the brain and the liver at the same time. In this condition, ...

Gentile syndrome is a very rare genetic disease. It belongs to the same family of diseases as Joubert syndrome, which affects the brain, and congenital hepatic ...

Oligophrenia is an old medical word that means a long-lasting problem with learning, thinking, and daily life skills that starts in childhood. Today doctors ...

Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called ...

COACH syndrome is a very rare genetic disease that mainly affects the brain, liver, eyes, and sometimes the kidneys. It is an autosomal recessive condition, ...

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

CLOVES syndrome is a very rare disease where some parts of the body grow too much and in an uneven way. It usually starts before birth, so the baby is born ...

Cloverleaf skull–multiple congenital anomalies syndrome is a very rare condition that a baby is born with. In this syndrome, the bones of the skull close too ...