Mengel-Konigsmark syndrome is a very rare genetic disorder present from birth. It is mainly known for conductive hearing loss and abnormal outer ear shape. In ...

Conductive hearing loss-malformed external ear syndrome is a very rare genetic syndrome present from birth. It mainly affects the outer ear and the middle ear ...

Conductive deafness–malformed external ear syndrome is a very rare genetic condition in which the outer ear (pinna and/or ear canal) does not form in the usual ...

Compton-North congenital myopathy (also called congenital lethal myopathy, Compton-North type or MYPCN) is an extremely rare genetic muscle disease that starts ...

Complex regional pain syndrome (CRPS) is a long-lasting pain problem that usually starts in one arm, hand, leg, or foot after an injury or a medical event. The ...

Complex regional pain syndrome (CRPS) is a long-lasting pain problem that usually starts in one arm, hand, leg, or foot after an injury or a medical event. The ...

Non-specific syndromic intellectual disability means a child or adult has lifelong learning problems together with other body problems (for example facial ...

A complex neurodevelopmental disorder means that a child (or sometimes an adult) has problems in more than one area of brain development at the same time. This ...

Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type, is a very rare inherited bone and cartilage disease that affects a baby before birth and ...

Osteochondrodysplasia is a big medical word for a large group of rare problems where bone and cartilage do not grow in the usual way. These problems are ...

Complex lethal osteochondrodysplasia is a very rare, inherited bone and cartilage disorder that starts before birth and is usually fatal for the fetus or ...

TUBB2B complex cortical dysplasia with other brain malformations (often shortened to CDCBM7) is a very rare brain development disease that starts before birth. ...

Tubulinopathies are a group of rare brain development disorders that happen when there is a harmful change (mutation) in one of the “tubulin” genes. Tubulin is ...

Polymicrogyria due to TUBB2B mutation is a rare brain development problem that starts before birth. In this condition, the outer layer of the brain (the ...

Complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B is a very rare genetic brain disorder. In this condition, the outer ...

Complex cortical dysplasia with other brain malformations 7 (CDCBM7) is a rare brain development disorder. In this condition, the outer layer of the brain (the ...

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation”. It can also be grouped under “complex cortical dysplasia with other brain ...

Complex cortical dysplasia with other brain malformations type 1 is a very rare brain problem that starts before birth. In this condition, brain cells do not ...

Complex cortical dysplasia with other brain malformations caused by mutation in TUBB3 is a rare genetic brain disorder. In this condition, the outer layer of ...

Complex cortical dysplasia with other brain malformations 1 (often shortened to CDCBM1) is a very rare genetic brain disease. In this condition, the outer ...