Oculootofacial Dysplasia
Oculootofacial dysplasia is a very rare genetic condition that affects the eyes (“oculo”), ears (“oto”), and face (“facial”). Children are born with this condition. It causes special facial features ...
Rx ENT, Oral and Dental Health (A – Z)
Burn-McKeown Syndrome
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 nose (choanal atresia or stenosis). ...
Branchio Oculo Facial Syndrome HING Type
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 before birth. In this condition, some ...
Cerebrooculonasal Syndrome
Cerebrooculonasal syndrome (also written cerebro-oculo-nasal syndrome, CONS) is a very rare birth condition where a baby is born with problems in three main areas: the brain (“cerebro”), the eyes ...
Cerebro-Costo-Mandibular Syndrome (CCMS)
Cerebro-costo-mandibular syndrome (CCMS) is a very rare genetic condition that is present from birth. It mainly affects the jaw (mandible), the ribs, and the roof of the mouth (palate). Babies with ...
Cerebral Gigantism-Jaw Cysts Syndrome
Cerebral gigantism-jaw cysts syndrome is an extremely rare birth (congenital) condition in which a child has very fast body and head growth (cerebral gigantism) together with special cysts in the jaw ...
Cerebellar-Facial-Dental Syndrome (CFDS)
Cerebellar-facial-dental syndrome (CFDS) is a very rare genetic condition that affects brain development, face shape, and teeth. It is a neurodevelopmental disorder, which means it starts before ...
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome is a very rare inherited brain and nerve disorder. Doctors often call it CAPOS syndrome (from the first letters of ...
CAPOS Syndrome
CAPOS syndrome is a very rare genetic brain and nerve disease. The name CAPOS comes from five main problems: Cerebellar ataxia (poor balance and coordination), Areflexia (weak or absent reflexes), ...
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is usually called CAPOS syndrome. It is a very rare genetic brain and nerve disorder. It affects balance and ...
Cerebellar Ataxia with Bilateral Vestibular Syndrome
Cerebellar ataxia with bilateral vestibular syndrome means that two balance systems are damaged at the same time. The first system is the cerebellum, a part of the brain that helps control balance, ...
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome
Cerebellar ataxia with bilateral vestibulopathy syndrome is a rare brain and inner-ear disorder where two main problems happen together: damage in the cerebellum (the part of the brain that controls ...
Central Nervous System Calcification–Deafness–Tubular Acidosis–Anemia Syndrome
Central nervous system calcification–deafness–tubular acidosis–anemia syndrome is a very rare inherited disorder that affects the brain and spinal cord, hearing, kidney acid control, and red blood ...
Oral Myiasis
Oral myiasis is an infection in the mouth caused by the larvae (baby stage) of certain flies. These tiny larvae live in soft tissues of the mouth, such as the gums, cheeks, lips, or tongue, and feed ...
Cataract-Hearing Loss-Hypogonadism Syndrome
Cataract-hearing loss-hypogonadism syndrome (usually called cataract-deafness-hypogonadism syndrome) is an extremely rare genetic disease. It was first reported in three brothers from one family. The ...
Cataract-Ataxia-Hearing Loss Syndrome
Cataract-ataxia-hearing loss syndrome (often called cataract-ataxia-deafness syndrome) is an extremely rare genetic disorder. Only a very small number of patients (two sisters in one family) have ...
Cataract-Ataxia-Deafness Syndrome
Cataract-ataxia-deafness syndrome is an extremely rare genetic disorder in which a person has three main problems together: cataracts present from birth (clouding of the eye lenses), ataxia (poor ...
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a rare genetic condition. It mainly affects the heart (cardio-), the face (facio-), and the skin and hair (cutaneous). Children usually have heart defects, special ...
Cardiac Anomalies–Developmental Delay–Facial Dysmorphism Syndrome
Cardiac anomalies–developmental delay–facial dysmorphism syndrome” is a rare genetic condition. Children with this condition often have heart problems that are present at birth, a slower pace of ...
Acute Gangrenous Stomatitis
Acute gangrenous stomatitis is a very fast-moving infection that destroys the mouth and face. It usually begins as sore, bleeding gums, then the tissues of the cheek, lips, and jaw die and break ...
Necrotizing Ulcerative Stomatitis
Necrotizing ulcerative stomatitis is a severe mouth infection. The soft lining of the mouth dies in patches, and deep ulcers form. These ulcers can cut across the gums, cheeks, and other mouth ...
Gangrenous Stomatitis
Gangrenous stomatitis—better known today as noma or cancrum oris—is a fast-moving infection that destroys the gums, cheeks, lips, and sometimes the nose and jaw. It mainly affects children who are ...
Cancrum Oris (Noma)
Cancrum oris, also called noma, is a very fast, severe infection that eats the mouth and face. It usually starts inside the mouth as sore, swollen gums. In a few days it can destroy soft tissue, ...
Stomatopyrosis
Stomatopyrosis means a constant or frequent burning, scalding, or tingling feeling in your mouth even though the lining of the mouth looks normal. The burning is usually felt on the tongue but can ...
Stomatodynia
Stomatodynia means a long-lasting burning, scalding, or tingling pain inside the mouth even though the mouth looks normal when a dentist or doctor examines it. The tongue is the most common place, ...
Orodynia
Orodynia means an ongoing burning, scalding, stinging, or tingling pain inside the mouth, usually with a normal-looking mouth on exam. Many people feel it on the tongue, lips, roof of the mouth, or ...
Burning Mouth Syndrome
Burning mouth syndrome is long-lasting mouth pain that feels like burning, scalding, tingling, or rawness even though the mouth looks normal. It often affects the tongue but can also involve the ...
Branchiogenic Hearing Loss Syndrome
Branchiogenic hearing loss syndrome refers to a group of birth conditions where parts of the neck and ear that grow from the branchial arches (structures that form the lower face, neck, and ear in ...
Abnormal Ears and Growth Deficiency
“Abnormal ears” means the ears look different from the usual shape or position, or parts inside the ear did not form normally. This can involve the outer ear you can see (pinna), the ear canal, the ...
Platyspondyly Amelogenesis Imperfecta
Platyspondyly amelogenesis imperfecta is a very rare inherited disorder that affects the spine and the teeth. “Platyspondyly” means the bones of the spine (vertebrae) are flatter than normal. This ...
Dental Anomalies and Short Stature
Dental anomalies are unusual changes in the teeth. They can affect how many teeth you have, how big they are, what shape they are, how strong the enamel (the hard outer layer) is, and when or where ...
BNAR Syndrome (Bifid Nose With or Without Anorectal and Renal Anomalies)
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 “bifid” tip of the nose. Some people also ...
Blepharospasm-Oromandibular Dystonia Syndrome
Blepharospasm-oromandibular dystonia syndrome is a neurological movement disorder where certain face and jaw muscles contract by themselves. People have frequent, sometimes strong spasms of the ...
Mental Retardation Unusual Facies and Hypothyroidism
Mental retardation, unusual facies, and hypothyroidism today we use the term intellectual disability instead of “mental retardation.” I will use simple words and short sentences. Each section ...
Hypothyroidism–Dysmorphism–Postaxial Polydactyly–Intellectual Disability Syndrome
Hypothyroidism–dysmorphism–postaxial polydactyly–intellectual disability syndrome is a rare genetic condition. Doctors most often call it Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) or the ...
Blepharonasofacial Malformation Syndrome
Blepharonasofacial malformation syndrome is a very rare birth condition that affects the face, especially the eyelids (“blepharo-”), the nose (“naso-”), and the overall facial shape. The face often ...
Lagophthalmia–Cleft Lip and Palate Syndrome (LCCLP)
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 fully close (lagophthalmia/lagophthalmos), ...
Elschnig Syndrome
Elschnig syndrome, which today is more often called Blepharocheilodontic (BCD) syndrome. It is a rare, inherited condition present at birth that mainly affects the eyelids, the upper lip and palate, ...
Ectropion Inferior–Cleft Lip and/or Palate Syndrome
Ectropion inferior–cleft lip and/or palate syndrome is a rare, inherited condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and “odontic” means teeth. Children with this ...
Blepharo-Cheilo-Odontic Syndrome
Blepharo-cheilo-odontic syndrome is a rare genetic condition that affects the eyelids, upper lip, and teeth. “Blepharo” means eyelid, “cheilo” means lip, and “odontic” means teeth. Babies are born ...
Pili Torti-Deafness Syndrome
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 shafts are twisted and fragile, and (2) ...
Hearing Loss–Pili Torti–Hypogonadism Syndrome
Hearing loss–pili torti–hypogonadism syndrome is a very rare genetic condition. It has three main features: (1) progressive sensorineural hearing loss (the inner ear and the hearing nerve slowly stop ...
Deafness–Pili Torti–Hypogonadism Syndrome
Deafness–Pili Torti–Hypogonadism Syndrome is a very rare genetic condition that links three main problems: (1) permanent inner-ear hearing loss (sensorineural deafness), (2) a hair-shaft defect ...
Maxillonasal Dysplasia Syndrome
Maxillonasal dysplasia syndrome—often called Binder syndrome—is a rare condition present at birth. It mainly affects the middle of the face, especially the upper jaw (premaxilla) and the nose. The ...
Maxillonasal Dysostosis
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 nose looks flat. The nose appears short ...
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 ...
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 ...
Autosomal Recessive Nonsyndromic Hearing Loss 1A (ARNSHL-1A)
Autosomal recessive nonsyndromic hearing loss 1A is a genetic type of hearing loss that affects the inner ear, especially a part called the cochlea. “Autosomal recessive” means a child must inherit a ...
Autosomal Dominant Omodysplasia
Autosomal dominant omodysplasia is a very rare genetic bone condition. “Omo” refers to the shoulder; “dysplasia” means an abnormal way that tissues grow. In this condition, the upper arms (humeri) ...
Autosomal Dominant Nonsyndromic Hearing Loss 53 (DFNA53)
Autosomal dominant nonsyndromic hearing loss 53 (DFNA53) is a rare inherited form of sensorineural hearing loss that runs in families in an autosomal dominant pattern. “Nonsyndromic” means the main ...
Autosomal Dominant Nonsyndromic Hearing Loss 3A (DFNA3A)
Autosomal dominant nonsyndromic hearing loss 3A (DFNA3A) is a genetic type of hearing loss passed in families where a single changed copy of a hearing gene is enough to cause hearing loss. Most ...
Autosomal Dominant Nonsyndromic Hearing Loss 2A
Autosomal dominant nonsyndromic hearing loss 2A—often shortened to DFNA2A—is a genetic form of sensorineural hearing loss (inner-ear hearing loss) caused by disease-causing changes (variants) in a ...
Autosomal Dominant Nonsyndromic Hearing Loss 24
Autosomal dominant nonsyndromic hearing loss 24—often shortened to DFNA24—is a rare, inherited type of hearing loss. “Autosomal dominant” means a person needs just one changed copy of the gene to ...
Nonsyndromic Hearing Loss and Deafness, DFNA23
Nonsyndromic Hearing Loss and Deafness, DFNA23 is a type of inherited, autosomal dominant, nonsyndromic hearing loss. “Autosomal dominant” means a single altered gene copy—from either parent—can ...
Autosomal Dominant Non-syndromic Hearing Loss and Deafness Linked to MYO6 (DFNA22)
Autosomal Dominant Non-syndromic Hearing Loss and Deafness Linked to MYO6 (DFNA22) is an inherited, progressive, sensorineural hearing loss that runs in families in an autosomal-dominant pattern. ...
Autosomal Dominant Nonsyndromic Hearing Loss 17 (DFNA17)
Autosomal dominant nonsyndromic hearing loss 17 (DFNA17) is a genetic type of permanent sensorineural hearing loss that usually starts after language is learned (post-lingual), tends to begin in the ...
Partial Epilepsy with Auditory Aura
Partial epilepsy with auditory aura means a person has repeated seizures that begin in one small area of one brain hemisphere (a “focal” or “partial” onset), and the very first symptom is something ...
Familial Epilepsy with Auditory Features
Familial epilepsy with auditory features is a type of focal (partial) epilepsy that tends to run in families and usually starts in the lateral (outer) part of the temporal lobe of the brain. People ...
Auriculoosteodysplasia
Auriculoosteodysplasia is a very rare inherited condition. It mainly affects the bones and the outer part of the ears. People with this condition have changes in several bones (called “multiple ...
Question Mark Ear Syndrome
Question mark ear syndrome describes a rare pattern of ear and jaw development differences present at birth. The most visible sign is a special ear shape that looks like a question mark: the top rim ...
Auriculocondylar Syndrome
Auriculocondylar syndrome is a genetic condition that affects how the ears and lower jaw form before birth. A typical sign is the “question-mark ear”—a split between the upper ear and the earlobe. ...
Auditory Neuropathy Optic Atrophy Syndrome (ANOA)
Auditory neuropathy–optic atrophy syndrome (ANOA) is a rare neurological condition in which the hearing nerve pathway does not transmit sound signals properly (auditory neuropathy) and the optic ...
Auditory Dys Synchrony
Auditory dys-synchrony (auditory neuropathy spectrum disorder, ANSD) is a hearing disorder in which sound enters the ear normally and the outer hair cells of the cochlea may work, but the electrical ...
Auditory Neuropathy
Auditory neuropathy is a hearing disorder where the inner ear (the cochlea) often “hears” sound normally, but the message does not travel correctly along the hearing nerve to the brain. People may ...
Ataxia–Deafness–Intellectual Disability Syndrome
Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic condition where a child develops trouble with ...
Arthrogryposis-like Hand Anomaly–Sensorineural Deafness Syndrome
Arthrogryposis-like hand anomaly–sensorineural deafness syndrome is a very rare genetic condition in which a person is born with hand deformities that look like arthrogryposis (stiff joints and ...
Arrhinia-Choanal Atresia-Microphthalmia Syndrome (BAMS)
Arrhinia-Choanal Atresia-Microphthalmia Syndrome (BAMS) means a baby is born without the external nose or with a very tiny or flat nose (arhinia), the back of the nose may be blocked (choanal ...
Nose Agenesis (Congenital Arhinia)
Nose agenesis—also called congenital arhinia—means a baby is born without the external nose and usually without the normal nasal passages inside. Because newborns prefer to breathe through the nose, ...
Hyporrhinia
Hyporrhinia means a baby is born with part of the nose missing or very under-developed. Doctors sometimes call it partial arhinia. It happens during early face formation in the embryo, but the exact ...
Bosma Arhinia Microphthalmia Syndrome (BAMS)
Bosma arhinia microphthalmia syndrome (BAMS) is a very rare, genetic condition present from birth. The main features are: an absent or very under-developed nose (arhinia), small eyes ...
Arrhinia
Arrhinia means a baby is born without a nose. This can range from the near-total absence of the outside nose to complete absence of both the outside nose and the inside nasal passages. Because ...
Congenital Absence of the Lacrimal Puncta and Salivary Glands
Congenital absence of the lacrimal puncta and salivary glands means a baby is born without one or both tiny tear openings on the eyelid edge (the lacrimal puncta) and without some or all of the major ...
Aplasia of Lacrimal and Salivary Glands (ALSG)
Aplasia of Lacrimal and Salivary Glands (ALSG) is a rare, inherited condition where the tear-making glands near the eyes (lacrimal glands) and the saliva-making glands in the mouth (parotid, ...
Aural Atresia
Aural atresia means the ear canal is not open. In many babies, the ear canal did not form normally before birth (this is called congenital aural atresia). In other people, the canal can close later ...
Anotia
Anotia means a baby is born without the outer ear (the visible ear on the side of the head). It is the most severe end of the “microtia–anotia” spectrum: microtia means a small or under-formed ear, ...
Total Anodontia of the Permanent and Deciduous (Baby) Teeth
Total anodontia of the permanent and deciduous (baby) teeth means a person is born without any natural teeth at all—no primary (baby) teeth and no permanent (adult) teeth ever form. It happens ...
Oligodontia
Oligodontia means being born without six or more permanent teeth (not counting wisdom teeth). It sits on the severe end of the “tooth agenesis” spectrum (few missing = hypodontia; many missing = ...
Hypodontia
Hypodontia means that one or more teeth never develop. It is a developmental condition—those teeth are absent from birth rather than lost later. Dentists usually do not count wisdom teeth (third ...
Tooth Agenesis
Tooth agenesis means one or more teeth never formed from birth. It ranges from hypodontia (1–5 missing permanent teeth, excluding wisdom teeth), to oligodontia (≥6 missing), and anodontia (all teeth ...
Developmental Absence of Tooth
Developmental absence of tooth means one or more teeth never form at all during early development. This is different from teeth that were present and later lost to decay, injury, or gum disease. The ...
Complete Absence of Teeth
Complete absence of teeth means a person has no natural teeth at all. The baby teeth never develop, and the adult teeth never develop either. Dentists call this anodontia. It is a rare condition. It ...
Anodontia
Anodontia means a person is born without any teeth at all. It is the most severe form of tooth agenesis, which is a developmental problem where teeth fail to form during early growth in the womb. ...
Ameloonychohypohidrotic Syndrome
Ameloonychohypohidrotic syndrome is an extremely rare condition that affects structures that come from the body’s outer layer (the ectoderm)—especially tooth enamel, nails, and sweat glands. People ...
KLK4 Amelogenesis Imperfecta (AI 1E)
KLK4 amelogenesis imperfecta (AI) is a genetic enamel disorder caused by harmful changes (variants) in the KLK4 gene. The KLK4 gene makes an enzyme (kallikrein-4) that helps remove extra enamel ...
Amelogenesis Imperfecta (AI) Pigmented Hypomaturation Type 1
Amelogenesis imperfecta (AI), pigmented hypomaturation type 1 is a genetic enamel problem. Enamel is the hard, white outer layer of the tooth. In this type of AI, the enamel is made in normal ...
Amelogenesis Imperfecta (AI) Caused by Mutation in the KLK4 Gene
Amelogenesis imperfecta (AI) is a group of inherited conditions where tooth enamel does not form or harden in the normal way. When AI is caused by a change (mutation) in a gene called KLK4, the main ...
Amelogenesis Imperfecta Hypomaturation Type, IIA1 (AI2A1)
Amelogenesis imperfecta type 2A1 is a rare genetic condition that affects the hard outer covering of teeth, called enamel. In this condition, the enamel looks normal in thickness, but it is not hard ...
Hypomaturation Amelogenesis Imperfecta (AI)
Hypomaturation amelogenesis imperfecta is a genetic tooth-enamel disorder. In this condition, the tooth builds a normal-thickness enamel layer during early development, but the final “maturation” ...
Amelogenesis Imperfecta Type 2 (Hypomaturation Type 2)
Amelogenesis imperfecta type 2 is a genetic enamel formation problem that mainly affects the maturation stage of enamel. Your enamel is the hard, shiny outer layer of each tooth. In type 2, the tooth ...
Enamel-Renal-Gingival (ERG) Syndrome
Enamel-renal-gingival syndrome is a rare inherited condition that affects the teeth, the kidneys, and the gums. Children are born with a gene change (they inherit it from both parents) that stops the ...
Enamel-Renal Syndrome (ERS)
Enamel-renal syndrome is a very rare genetic condition. It affects the teeth and the kidneys at the same time. In the teeth, the hard outer layer (enamel) is very thin or almost absent. This is a ...
Amelogenesis Imperfecta Gingival Hyperplasia (Gingival Fibromatosis) Syndrome
Amelogenesis imperfecta–gingival hyperplasia syndrome is a rare inherited condition that mainly affects the teeth and gums. “Amelogenesis imperfecta” means the enamel (the hard, shiny outer coating ...
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis
Amelogenesis imperfecta hypoplastic with nephrocalcinosis is a rare, inherited condition. It mainly affects teeth and kidneys.In the teeth, the outer hard layer (enamel) is too thin or missing in ...
Amelogenesis Imperfecta Caused by FAM20A Mutation
Amelogenesis imperfecta (AI) is a group of genetic conditions where the hard outer layer of the teeth, called enamel, does not form in the normal way. When AI is caused by a mutation in a gene named ...
