Neuroectodermal dysplasia, CHIME type (usually called CHIME syndrome), is a very rare genetic condition. It mainly affects the skin, eyes, heart, brain, and ...

Neuroectodermal dysplasia, CHIME type, is another name for CHIME syndrome. This is a very rare disease that affects many parts of the body, especially the ...

Inflammation of myoseptum is another medical name for childhood type dermatomyositis, also called juvenile dermatomyositis (JDM). It is a rare disease in ...

Childhood onset GLUT1 deficiency syndrome 2 (GLUT1DS2) is a rare brain disease that starts in childhood and mainly causes short attacks of strange movements in ...

Pediatric melanoma (also called childhood melanoma) is a cancer that starts in the pigment-making cells (melanocytes) of a child’s skin, eye, or very rarely ...

Pyknolepsy is an old medical word that doctors used for a special kind of epilepsy in children. Today it is mostly called childhood absence epilepsy. In this ...

Childhood absence epilepsy is a kind of epilepsy that starts in young children, usually between 4 and 10 years of age. In this condition, a child has many ...

Arnold–Chiari malformation type II is a birth (congenital) problem of the back part of the brain and the upper spinal canal. In this condition, the lower parts ...

Charlie M syndrome is an extremely rare condition present from birth that affects how the face, mouth, tongue, jaw, teeth, hands, and feet grow and form. ...

CLN6 late infantile neuronal ceroid lipofuscinosis (often called CLN6 late infantile NCL) is a rare, inherited brain disease in children. It happens when both ...

Sacral agenesis syndrome is a rare birth condition where the lowest part of the spine (the sacrum and often the coccyx and lower lumbar vertebrae) does not ...

Caudal dysplasia sequence (also called caudal regression syndrome) is a rare birth condition in which the lower part of the baby’s body does not form normally ...

Caudal dysgenesis syndrome (CDS) is a rare birth defect where the lower part of the baby’s spine and nearby organs do not form in the usual way during very ...

Caudal regression sequence is a rare birth condition where the lower part of a baby’s spine and nearby organs do not form completely in the womb. It mainly ...

Caroli disease is a rare, congenital (present from birth) condition of the bile ducts inside the liver. In this disorder, parts of the large intrahepatic bile ...

Lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency is a very severe, inherited energy-use problem that appears in the first days of life. ...

Parkes Weber syndrome (PWS) is a rare condition present from birth where abnormal fast-flow connections form between arteries and veins (arteriovenous fistulas ...

Spongy degeneration of white matter in infancy is a rare, inherited brain disorder in which the white matter—the insulation that helps brain cells send fast, ...

Multiple birthmarks means a person has more than one mark on the skin that was present at birth or appeared in the first years of life. Birthmarks can be ...

Christian brachydactyly is a very rare birth condition that affects the hands and feet. “Brachydactyly” means short fingers or toes. “Preaxial” means the thumb ...