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

Burn-McKeown syndrome is a very rare genetic condition present from birth. Children with this syndrome usually have blocked or very narrow back parts of the ...

Branchio-oculo-facial syndrome (often shortened to BOFS) is a rare genetic condition that affects how the face, neck, eyes, and sometimes ears and kidneys form ...

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 ...

Choanal atresia with radial ray hypoplasia is a very rare birth syndrome. In this condition, the back part of the nose (the choanae) is blocked or too narrow, ...

Neuroectodermal syndromes is a broad name for a group of rare genetic disorders that start very early in life, when the baby is still forming in the womb. The ...

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 ...

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 ...

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 ...

Very early-onset schizophrenia (VEOS) is a serious brain illness. In this condition, a child has strong problems with thinking, feelings, and behavior. The ...

Childhood-onset schizophrenia is a serious mental health disorder where a child loses touch with reality. This means the child may see, hear, or believe things ...

Childhood-onset progressive contractures–limb-girdle weakness–muscle dystrophy syndrome is a very rare genetic muscle disease. In this condition, a child ...

Childhood-onset nemaline myopathy is a rare muscle disease that starts in later childhood, not at birth. It is also called the mild form of nemaline myopathy. ...

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder is a very rare brain disease that starts in young children. At ...

Childhood-onset benign chorea with striatal involvement is a very rare genetic movement disorder that starts in childhood and mainly causes fast, jerky, ...