Isolated congenital anosmia means a person is born with little or no sense of smell, and this problem is present from the start of life. The word isolated ...

Congenital anosmia means a person is born with no sense of smell. The smell loss is present from birth and usually lasts for life. In some people, it happens ...

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 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 ...

Macrostomia is a rare birth defect of the face where the mouth opening is longer and wider than normal, usually stretching toward the ear on one or both sides. ...

Commissural facial cleft is a rare birth problem where the corner of the mouth (the “commissure”) is too wide or even open toward the cheek or ear. It is part ...

Syndromic sensorineural hearing loss due to combined oxidative phosphorylation defect (COXPD) means that a child or adult has permanent inner-ear ...

Oculovestibuloauditory syndrome is another name doctors sometimes use for Cogan’s syndrome. It is a rare autoimmune disease. “Autoimmune” means the body’s own ...

Diffuse interstitial keratitis is a long-lasting inflammation in the middle layer of the clear front window of the eye, called the cornea. In this condition, ...

Cerebro-oculo-facio-skeletal (COFS) syndrome is a very rare genetic disease that affects the brain, eyes, face and bones from before birth. It is present at ...

Cockayne syndrome type 1 is a very rare inherited disease that affects many parts of the body, especially the brain, eyes, ears, skin, and growth. It happens ...

Neill-Dingwall syndrome is another name for Cockayne syndrome, a very rare, serious genetic disease in children. It affects many parts of the body, especially ...

Cockayne syndrome is a very rare genetic disease that affects many organs in the body. Children with this condition are usually very small in height, have a ...

Cochleosaccular degeneration with progressive cataract is a very rare inherited disease that affects both hearing and vision. In this disease, parts of the ...

Cochleosaccular degeneration-cataract syndrome is a very rare genetic disease. It affects two main organs: the inner ear (the cochlea and the saccule) and the ...

Cleidorhizomelic syndrome is an extremely rare genetic bone growth disorder (skeletal dysplasia). It mainly affects the upper parts of the arms and legs ...

Cleidocranial dysplasia, recessive form, is a very rare genetic bone disease. It mainly affects the skull, collarbones, teeth, spine, and growth of the body. ...

Marie-Sainton disease is another name for a rare bone and tooth disorder officially called cleidocranial dysplasia or cleidocranial dysostosis. In this ...

Craniocleidodysostosis (often called cleidocranial dysostosis or cleidocranial dysplasia) is a rare genetic condition that mainly affects how bones and teeth ...