Elschnig syndrome, which today is more often called Blepharocheilodontic (BCD) syndrome. It is a rare, inherited condition present at birth that mainly affects ...

Ectropion inferior–cleft lip and/or palate syndrome is a rare, inherited condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and ...

Blepharo-cheilo-odontic syndrome is a rare genetic condition that affects the eyelids, upper lip, and teeth. “Blepharo” means eyelid, “cheilo” means lip, and ...

Pili torti-deafness syndrome is a very rare genetic condition. Children are born with, or soon develop, two main problems: (1) pili torti, which means the hair ...

Hearing loss–pili torti–hypogonadism syndrome is a very rare genetic condition. It has three main features: (1) progressive sensorineural hearing loss (the ...

Deafness–Pili Torti–Hypogonadism Syndrome is a very rare genetic condition that links three main problems: (1) permanent inner-ear hearing loss (sensorineural ...

Maxillonasal dysplasia syndrome—often called Binder syndrome—is a rare condition present at birth. It mainly affects the middle of the face, especially the ...

Maxillonasal dysostosis is a rare, birth-present (congenital) condition in which the middle of the face and the nose are under-developed. The bridge of the ...

Binder type maxillonasal dysplasia—often called Binder syndrome—is a rare condition present at birth in which the central face does not develop fully, ...

Maxillo-nasal dysplasia (often called Binder syndrome) is a rare birth condition where the middle part of the face—especially the upper jaw (premaxilla) and ...

Microtia means a baby is born with an outer ear that is smaller, oddly shaped, or missing. It can be mild (a small ear) or severe (no visible ear, called ...

Microtia means a baby is born with a small or missing outer ear (pinna). It can affect one ear or both. Sometimes the ear canal is narrow or absent (aural ...

Bilateral microtia–hearing loss–cleft palate describes three problems present from birth. Microtia means the outer ear is small or poorly formed. When both ...

Bilateral microtia–deafness–cleft palate syndrome is a rare birth condition. “Bilateral” means both sides. “Microtia” means the outer ears are small, ...

A submucous cleft palate is a hidden split or separation in the muscles of the soft palate that is covered by normal-looking mucosa (the lining skin). Because ...

Cleft of the uvula means the small soft tissue at the back of the mouth (the “uvula”) looks split into two tips. Many people have this with no trouble at all. ...

A bifid palatine uvula means the little soft dangly part at the back of your throat (the uvula) looks split into two parts. Many people with a bifid uvula are ...

A bifid uvula means the little soft tissue that hangs at the back of your mouth—the uvula—is split into two parts or looks like it has a cleft. This split ...

Indentation clefting of the nose means there is a split, groove, or deep notch in the nose, often in the midline, that can range from a shallow dimple at the ...

A cleft nasal bridge means there is a visible split, groove, or gap along the top of the nose (the “bridge”) where the right and left sides did not fully join ...