Binder Type Maxillonasal Dysplasia
Binder type maxillonasal dysplasia—often called Binder syndrome—is a rare condition present at birth in which the central face does not develop fully, especially the upper jaw (maxilla) in the front ...
Rx ENT, Oral and Dental Health (A – Z)
Maxillo-Nasal Dysplasia
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 the nose—does not grow as much as usual. ...
Microtia Hearing Impairment, and Cleft Palate
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 anotia). Microtia often affects one side, but ...
Microtia (With or Without Hearing Impairment)
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 atresia), which can cause hearing loss on ...
Bilateral Microtia–Hearing Loss–Cleft Palate Syndrome
Bilateral microtia–hearing loss–cleft palate describes three problems present from birth. Microtia means the outer ear is small or poorly formed. When both ears are affected, it is bilateral. Hearing ...
Bilateral Microtia-Deafness-Cleft Palate Syndrome
Bilateral microtia–deafness–cleft palate syndrome is a rare birth condition. “Bilateral” means both sides. “Microtia” means the outer ears are small, misshapen, or partly absent. “Deafness” means ...
Submucous Cleft Palate (SMCP)
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 the lining is intact, the cleft can be ...
Cleft of the Uvula
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. Sometimes, a split uvula is a clue that ...
Bifid Palatine Uvula
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 perfectly healthy and never have a ...
Bifid Uvula
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 happens before birth when the tissues of the ...
Indentation Clefting of the Nose
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 nasal tip to a visible cleft that ...
Cleft Nasal Bridge
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 together. This gap can be shallow (just ...
Bifid Nasal Bridge
A bifid nasal bridge means the bridge of the nose is split or divided down the middle. Instead of one smooth ridge, there is a midline groove or a true gap through the tissues of the upper nose. ...
Bifid Nose
A bifid nose means the nose looks “split” down the middle, as if the tip or the bridge has a groove that divides the nose into two parts. Doctors call this a median (midline) cleft of the nose. It is ...
Autosomal Recessive Nonsyndromic Hearing Loss 9 (ARNSHL9)
Autosomal Recessive Nonsyndromic Hearing Loss 9 (ARNSHL9) is a genetic type of hearing loss caused by changes (variants) in a gene called OTOF. This gene makes a protein named otoferlin, which helps ...
Autosomal Recessive Neurosensory Deafness with Hearing Loss 47
Autosomal recessive neurosensory deafness with hearing loss 47 (DFNB47) is a rare, inherited form of non-syndromic sensorineural hearing loss. “Autosomal recessive” means a child is affected when ...
Autosomal Recessive Nonsyndromic Hearing Loss 47
Autosomal recessive nonsyndromic hearing loss 47 is a rare, inherited kind of permanent hearing loss. “Autosomal recessive” means a child must inherit the faulty DNA change from both parents. ...
GJB6-Related DFNB1 Nonsyndromic Hearing Loss and Deafness
GJB6-related DFNB1 nonsyndromic hearing loss is a type of inherited, inner-ear (sensorineural) hearing loss caused by harmful changes in the GJB6 gene. GJB6 makes a protein called connexin-30. This ...
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss (DFNB1)
GJB2-related autosomal recessive nonsyndromic hearing loss is a genetic condition where a child is born with hearing loss because both copies of a single gene, called GJB2, do not work properly. The ...
GJB2/GJB6 Autosomal Recessive Digenic Deafness
GJB2 and GJB6 autosomal recessive digenic deafness are genes that make tiny “gap junction” channel proteins, connexin-26 and connexin-30. These channels let potassium ions and small signals pass ...
