BNAR Syndrome (Bifid Nose With or Without Anorectal and Renal Anomalies) is a very rare, inherited condition present at birth. The key feature is a split or ...

Blepharospasm-oromandibular dystonia syndrome is a neurological movement disorder where certain face and jaw muscles contract by themselves. People have ...

Mental retardation, unusual facies, and hypothyroidism today we use the term intellectual disability instead of “mental retardation.” I will use simple words ...

Hypothyroidism–dysmorphism–postaxial polydactyly–intellectual disability syndrome is a rare genetic condition. Doctors most often call it ...

Blepharonasofacial malformation syndrome is a very rare birth condition that affects the face, especially the eyelids (“blepharo-”), the nose (“naso-”), and ...

Lagophthalmia–cleft lip and palate syndrome (LCCLP) is a rare birth condition where a baby is born with two main problems together: (1) the eyelids do not ...

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, ...