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, ...
Rx ENT, Oral and Dental Health (A – Z)
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 ...
