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Anodontia Perplexa
Anodontia is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is divided into two subsections, complete absence of teeth or only some absence of teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an isolated entity. There is usually no exact cause for anodontia. The defect results in the dental lamina obstruction during embryogenesis due to local, systemic and genetic factors. Congenital absence of permanent teeth can present as hypodontia, usually missing one or two permanent teeth, or oligodontia that is the congenital absence of six or more teeth. Congenital absence of all wisdom teeth, or third molars, is relatively common. Anodontia is the congenital absence of teeth and can occur in some or all teeth; whereas partial anodontia (or hypodontia), involves two dentitions or only teeth of the permanent dentition (Dorlan ...
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Dentistry
Dentistry, also known as dental medicine and oral medicine, is the branch of medicine focused on the teeth, gums, and mouth. It consists of the study, diagnosis, prevention, management, and treatment of diseases, disorders, and conditions of the mouth, most commonly focused on dentition (the development and arrangement of teeth) as well as the oral mucosa. Dentistry may also encompass other aspects of the craniofacial complex including the temporomandibular joint. The practitioner is called a dentist. The history of dentistry is almost as ancient as the history of humanity and civilization with the earliest evidence dating from 7000 BC to 5500 BC. Dentistry is thought to have been the first specialization in medicine which have gone on to develop its own accredited degree with its own specializations. Dentistry is often also understood to subsume the now largely defunct medical specialty of stomatology (the study of the mouth and its disorders and diseases) for which reas ...
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Aplasia
Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produce blood cells. It may occur at any time, and has multiple causes. __TOC__ Examples * Acquired pure red cell aplasia * Aplasia cutis congenita * Aplastic anemia * Germ cell aplasia, also known as Sertoli cell-only syndrome * Radial aplasia * Thymic aplasia, which is found in DiGeorge syndrome and also occurs naturally as part of the gradual loss of function of the immune system later in life See also * Atrophy * Hyperplasia * Hypoplasia * Neoplasia * List of biological development disorders References Bibliography * Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. Campbell Biology (10th ed.). Addison Wesley Longman; 2014. {{DEFAULTSORT:Biological development disorders Lists of diseases Disability-related ...
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MSX1
Homeobox protein MSX-1, is a protein that in humans is encoded by the ''MSX1'' gene. MSX1 transcripts are not only found in thyrotrope-derived TSH cells, but also in the TtT97 thyrotropic tumor, which is a well differentiated hyperplastic tissue that produces both TSHß- and a-subunits and is responsive to thyroid hormone. MSX1 is also expressed in highly differentiated pituitary cells which until recently was thought to be expressed exclusively during embryogenesis. There is a highly conserved structural organization of the members of the MSX family of genes and their abundant expression at sites of inductive cell–cell interactions in the embryo suggest that they have a pivotal role during early development. Function This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also ...
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EDARADD
Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the ''EDARADD'' gene. Function This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. Interactions EDARADD has been shown to Protein-protein interaction, interact ...
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Ectodysplasin A Receptor
Ectodysplasin A receptor (EDAR) is a protein that in humans is encoded by the EDAR gene. EDAR is a cell surface receptor for ectodysplasin A which plays an important role in the development of ectodermal tissues such as the skin. It is structurally related to members of the TNF receptor superfamily. Function ''EDAR'' and other genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the proper formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. Clinical significance Mutation in this gene have been associated with hypohidrotic ectodermal dysplasia, a disorder characterized by a lower densit ...
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Ectodysplasin A
Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans. It is recognized by the ectodysplasin A receptor. Function The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms A protein isoform, or "protein ...
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Cleft Lip And Cleft Palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ...
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Sweat Gland
Sweat glands, also known as sudoriferous or sudoriparous glands, , are small tubular structures of the skin that produce sweat. Sweat glands are a type of exocrine gland, which are glands that produce and secrete substances onto an epithelial surface by way of a duct. There are two main types of sweat glands that differ in their structure, function, secretory product, mechanism of excretion, anatomic distribution, and distribution across species: * Eccrine sweat glands are distributed almost all over the human body, in varying densities, with the highest density in palms and soles, then on the head, but much less on the trunk and the extremities. Its water-based secretion represents a primary form of cooling in humans. * Apocrine sweat glands are mostly limited to the axillae (armpits) and perineal area in humans. They are not significant for cooling in humans, but are the sole effective sweat glands in hoofed animals, such as the camels, donkeys, horses, and cattle. Ceruminou ...
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Alopecia
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarring is not usually present. Hair loss in some people causes psychological distress. Common types include male- or female-pattern hair loss, alopecia areata, and a thinning of hair known as telogen effluvium. The cause of male-pattern hair loss is a combination of genetics and male hormones; the cause of female pattern hair loss is unclear; the cause of alopecia areata is autoimmune; and the cause of telogen effluvium is typically a physically or psychologically stressful event. Telogen effluvium is very common following pregnancy. Less common causes of hair loss without inflammation or scarring include the pulling out of hair, certain medications including chemotherapy, HIV/AIDS, hypothyroidism, and malnutrition including iron defici ...
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Baby Teeth
Deciduous teeth or primary teeth, also informally known as baby teeth, milk teeth, or temporary teeth,Illustrated Dental Embryology, Histology, and Anatomy, Bath-Balogh and Fehrenbach, Elsevier, 2011, page 255 are the first set of teeth in the growth and development of humans and other diphyodonts, which include most mammals but not elephants, kangaroos, or manatees which are polyphyodonts. Deciduous teeth develop during the embryonic stage of development and erupt (break through the gums and become visible in the mouth) during infancy. They are usually lost and replaced by permanent teeth, but in the absence of their permanent replacements, they can remain functional for many years into adulthood. Development Formation Primary teeth start to form during the embryonic phase of human life. The development of primary teeth starts at the sixth week of tooth development as the dental lamina. This process starts at the midline and then spreads back into the posterior region. B ...
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Prevalence
In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number of people found to have the condition with the total number of people studied and is usually expressed as a fraction, a percentage, or the number of cases per 10,000 or 100,000 people. Prevalence is most often used in questionnaire studies. Difference between prevalence and incidence Prevalence is the number of disease cases ''present ''in a particular population at a given time, whereas incidence is the number of new cases that ''develop '' during a specified time period. Prevalence answers "How many people have this disease right now?" or "How many people have had this disease during this time period?". Incidence answers "How many people acquired the disease uring a specified time period". However, mathematically, prevalence is propor ...
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Incisor
Incisors (from Latin ''incidere'', "to cut") are the front teeth present in most mammals. They are located in the premaxilla above and on the mandible below. Humans have a total of eight (two on each side, top and bottom). Opossums have 18, whereas armadillos have none. Structure Adult humans normally have eight incisors, two of each type. The types of incisor are: * maxillary central incisor (upper jaw, closest to the center of the lips) * maxillary lateral incisor (upper jaw, beside the maxillary central incisor) * mandibular central incisor (lower jaw, closest to the center of the lips) * mandibular lateral incisor (lower jaw, beside the mandibular central incisor) Children with a full set of deciduous teeth (primary teeth) also have eight incisors, named the same way as in permanent teeth. Young children may have from zero to eight incisors depending on the stage of their tooth eruption and tooth development. Typically, the mandibular central incisors erupt first, followed ...
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