Blue cone monochromacy (BCM) is a very rare eye disease that a person is born with. In this condition, the red and green cone cells in the retina do not work, ...

Atypical X-linked achromatopsia is a rare eye disease that affects how the cone cells in the retina work. Cone cells help us see fine detail and color. In this ...

Cone monochromatism is a rare eye problem where a person has only one working type of cone cell in the retina, instead of three different cone types like most ...

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 ...

Retinal cone dystrophy type 3B is a very rare inherited eye disease that mainly damages the cone cells in the retina, which are the light-sensitive cells ...

Cone dystrophy with supernormal scotopic electroretinogram is a rare, inherited eye disease that mainly damages the cone cells in the retina, and later also ...

Cone dystrophy with supernormal rod electroretinogram is a rare eye disease that damages the light-sensing cells in the retina, especially the cone cells in ...

Cone dystrophy with supernormal rod response (CDSRR) is a very rare inherited eye disease where the cone cells in the retina slowly stop working properly, and ...

Cone dystrophy is a rare eye disease where the cone cells in the retina slowly stop working properly. Cone cells are the light-sensing cells that help you see ...

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 hearing loss-ptosis-skeletal anomalies syndrome is a very rare genetic condition. In this syndrome, the tiny passages and bones in the outer and ...

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 ...

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 ...