Cone dystrophy, X-linked, with tapetal-like sheen is a very rare inherited eye disease that mainly affects the light-sensitive cone cells in the retina (the ...

Jackson-Barr syndrome is a very rare genetic condition that affects hearing, the eyelids, the skeleton (bones and joints), and some parts of the skin, hair, ...

Conductive deafness–ptosis–skeletal anomalies syndrome is a very rare genetic syndrome where a person is born with a block in the sound-path of the ear ...

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 ...

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. ...

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 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 ...

Mosaic trisomy 20 syndrome happens when some of the body’s cells have an extra copy of chromosome 20, but other cells have the normal number of chromosomes. In ...

Complete trisomy 20 syndrome is a genetic condition where a person has three copies of chromosome 20 instead of the usual two copies. Chromosomes are tiny ...