Colobomatous macrophthalmia-microcornea syndrome is a very rare eye condition that is present from birth and runs in families. In this condition, the clear ...

Congenital optic disc coloboma is a birth defect of the optic nerve head (the place where the nerve enters the back of the eye). In this condition, a piece of ...

Sorsby syndrome is a very rare genetic disease that affects both the eyes and the fingers and toes from birth. The main problems are a special type of eye ...

Coloboma of macula–brachydactyly type B syndrome is a very rare genetic condition that affects both the eyes and the hands/feet from birth and lasts for life. ...

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome is an extremely rare genetic disease that mainly affects bones of the skull and the whole ...

Cole-Carpenter syndrome is an extremely rare genetic bone disease. It affects less than a few dozen people in the world. In this condition, the bones are weak ...

CRLF1-related cold-induced sweating syndrome, including Crisponi syndrome, is a very rare genetic disease that affects how the body controls temperature, ...

Cold-induced sweating syndrome 1 (CISS1) is a very rare genetic disease that affects how the body controls temperature and how the nerves and face develop. In ...

Sohar-Crisponi syndrome is a very rare genetic disease that mainly affects babies and children. It belongs to a family of problems called cold-induced sweating ...

Crisponi syndrome is a very rare genetic disease. It starts in newborn babies. The baby has sudden strong muscle contractions, mainly in the face, neck, and ...

Cold-induced sweating syndrome (CISS) is a very rare genetic disease. It mainly affects how the body controls temperature, sweating, face muscles, and bones. ...

Chronic cold agglutinin disease is a long-lasting blood disease where your immune system wrongly attacks your own red blood cells, mainly when your body or ...

Cold agglutinin disease (CAD) is a rare kind of autoimmune hemolytic anemia. This means your immune system makes a wrong antibody that attacks your own red ...

Cohen-Gibson syndrome is a very rare genetic condition. It starts before birth or in early childhood. Children with this syndrome usually grow faster and ...

Cohen syndrome is a very rare genetic condition that affects many parts of the body, especially growth, learning, eyes, blood cells, and body shape. It usually ...

Cognitive impairment – coarse facies – heart defects – obesity – pulmonary involvement – short stature – skeletal dysplasia syndrome is a very rare genetic ...

Cogan syndrome is a rare disease where the body’s own defense system (the immune system) wrongly attacks parts of the eyes and inner ears. This attack causes ...

Component of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how ...

Carbohydrate deficient glycoprotein syndrome type IIh is a very rare inherited metabolic disease. It belongs to a group of diseases called congenital disorders ...

COG8-congenital disorder of glycosylation (COG8-CDG) is a very rare genetic disease. It happens when the COG8 gene does not work in the normal way. This gene ...