Christianson syndrome is a rare genetic condition that mainly affects the brain and nervous system. It usually shows up in the first year of life. Babies and ...

Xq21 microdeletion syndrome happens when a very small piece is missing from the long arm of the X chromosome, in a region called “Xq21.” This missing piece ...

Xq21 deletion syndrome is a very rare genetic condition where a small missing piece (deletion) on the long arm of the X chromosome, in a region called Xq21, ...

Ayazi syndrome is a very rare genetic disease. It happens when a small piece is missing (deleted) from a special part of the X chromosome called Xq21. This ...

Choroideremia-deafness-obesity syndrome is a very rare genetic disease that mainly affects boys and men. It is caused by a small missing piece of the X ...

Moloney syndrome is a very rare genetic condition. It mainly affects the eyes (the choroid and retina), the hair, and the nails. It belongs to a group of ...

Pseudohermaphroditism is an old medical word for a group of conditions where a person’s chromosomes and internal sex organs are clearly male or clearly female, ...

Nivelon-Nivelon-Mabille syndrome (NNMS) is a very rare genetic condition that affects bone growth, brain development, and the way sex organs develop in some ...

Toriello-Higgins-Miller syndrome is a very rare genetic disease that mainly affects the bones, face, hands and feet, and sometimes the eyes, brain, and heart. ...

Happle syndrome is another name for Conradi–Hünermann–Happle syndrome, also called X-linked dominant chondrodysplasia punctata type 2 (CDPX2). It is a very ...

Conradi-Hünermann-Happle syndrome is a very rare genetic disease that mainly affects bones, skin, hair, and eyes. It is a type of bone growth problem called ...

Cholangiocarcinoma is a cancer that starts in the bile ducts. Bile ducts are thin tubes that carry a yellow-green fluid called bile from the liver to the ...

Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is usually called Burn-McKeown syndrome. It is a very rare birth condition ...

Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is a very rare genetic condition that starts before birth. It mainly affects the ...

Radial ray hypoplasia–choanal atresia syndrome (also called Goldblatt-Viljoen syndrome) is an extremely rare genetic condition. In this syndrome a child is ...

Goldblatt-Viljoen syndrome is a very rare birth condition where a baby is born with three main problems together: the bones on the thumb side of the forearm ...

Zunich-Kaye syndrome is a very rare genetic condition that affects many body systems at the same time. Doctors also call it CHIME syndrome. Children are born ...

Congenital disorder of glycosylation due to PIGL deficiency (often called CHIME syndrome or PIGL-CDG) is an ultra-rare genetic disease. It is caused by harmful ...

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome is usually called CHIME syndrome. It is a ...

CHIME syndrome is a very rare genetic disease that affects many parts of the body, especially the eyes, heart, skin, brain, and ears. The name “CHIME” comes ...