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 thin nerve layer at the back of the eye). ...
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, and teeth. Doctors also call it an ...
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 (conductive hearing loss), droopy upper eyelids ...
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 many reported descriptions, the visible ...
Compton-North congenital myopathy (also called congenital lethal myopathy, Compton-North type or MYPCN) is an extremely rare genetic muscle disease that starts before birth and is usually fatal ...
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 pain is much stronger than expected for ...
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 pain is much stronger than expected for ...
Non-specific syndromic intellectual disability means a child or adult has lifelong learning problems together with other body problems (for example facial differences, heart defect, short height or ...
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 can include difficulties with thinking ...
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type, is a very rare inherited bone and cartilage disease that affects a baby before birth and is usually fatal in the womb or soon ...
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 usually present from birth and are caused by ...
Complex lethal osteochondrodysplasia is a very rare, inherited bone and cartilage disorder that starts before birth and is usually fatal for the fetus or newborn baby. In this condition, the whole ...
TUBB2B complex cortical dysplasia with other brain malformations (often shortened to CDCBM7) is a very rare brain development disease that starts before birth. In this disease, the outer layer of ...
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 cortex) has too many very small folds, and 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 layer of the brain (the cortex) does not ...
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 move to the right place and their long ...
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 the brain (cerebral cortex) and deeper ...
Complex cortical dysplasia with other brain malformations 1 (often shortened to CDCBM1) is a very rare genetic brain disease. In this condition, the outer layer of the brain (the cerebral cortex) and ...
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 simple words, the body becomes a “mix” ...
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 “packages” of DNA that carry our genes. In ...
