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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely.
The human teeth function to mechanically break down items of food by cutting and crushing them in preparation for swallowing and digesting. Humans have four types of teeth: incisors, canines, premolars, and molars, which each have a specific function. The incisors cut the food, the canines tear the food and the molars and premolars crush the food. The roots of teeth are embedded in the maxilla or the mandible and are covered by gums. Teeth are made of multiple tissues of varying density and hardness.
Pica is the eating or craving of things that are not food. It can be a disorder in itself or a sign of other cultural or medical phenomena. The ingested or craved substance may be biological, natural or manmade. The term was drawn directly from the medieval Latin word for magpie, a bird subject to much folklore regarding its opportunistic feeding behaviors.
Tooth decay, also known as cavities or caries, is the breakdown of teeth due to acids produced by bacteria. The cavities may be a number of different colors from yellow to black. Symptoms may include pain and difficulty with eating. Complications may include inflammation of the tissue around the tooth, tooth loss and infection or abscess formation.
Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome, or Gillespie syndrome.
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.
Glossitis can mean soreness of the tongue, or more usually inflammation with depapillation of the dorsal surface of the tongue, leaving a smooth and erythematous (reddened) surface,. In a wider sense, glossitis can mean inflammation of the tongue generally. Glossitis is often caused by nutritional deficiencies and may be painless or cause discomfort. Glossitis usually responds well to treatment if the cause is identified and corrected. Tongue soreness caused by glossitis is differentiated from burning mouth syndrome, where there is no identifiable change in the appearance of the tongue, and there are no identifiable causes.
Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.
Hypochromic anemia is a generic term for any type of anemia in which the red blood cells are paler than normal. A normal red blood cell has a biconcave disk shape and will have an area of pallor in its center when viewed microscopically. In hypochromic cells, this area of central pallor is increased. This decrease in redness is due to a disproportionate reduction of red cell hemoglobin in proportion to the volume of the cell. Clinically the color can be evaluated by the mean corpuscular hemoglobin (MCH) or mean corpuscular hemoglobin concentration (MCHC). The MCHC is considered the better parameter of the two as it adjusts for effect the size of the cell has on its amount of hemoglobin. Hypochromia is clinically defined as below the normal MCH reference range of 27–33 picograms/cell in adults or below the normal MCHC reference range of 33–36 g/dL in adults.
Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs).
An odontoma, also known as an odontome, is a benign tumour linked to tooth development. Specifically, it is a dental hamartoma, meaning that it is composed of normal dental tissue that has grown in an irregular way. It includes both odontogenic hard and soft tissues. As with normal tooth development, odontomas stop growing once mature which makes them benign.
Talon cusp is a rare dental anomaly resulting in an extra cusp or cusp-like projection on an anterior tooth, located on the inside surface of the affected tooth. Sometimes it can also be found on the facial surface of the anterior tooth.
Alopecia contractures dwarfism mental retardation syndrome or is a developmental disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and nearsightedness are also typical.
Ruzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis, deafness, intellectual disability, and skeletal anomalies.
Genitopatellar syndrome is a rare disorder with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and developmental delay. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome.
Gouverneur's syndrome is characterised by vesicointestinal fistula with associated suprapubic pain, urinary frequency, pain on passing urine, and tenesmus. It is named after French physician R. Gouverneur.
References
- ↑ Firkin, Barry G.; Whitworth, Judith A. (2001). Dictionary of medical eponyms (2nd ed.). Informa Health Care. p. 30. ISBN 978-1-85070-333-4.
- ↑ Bartolucci, Susan L; Stedman, Thomas Lathrop; Forbis, Pat (2005). Stedman's medical eponyms (2nd ed.). Lippincott Williams & Wilkins. p. 63. ISBN 978-0-7817-5443-9.
- ↑ Benjamin E (1911). Über eine selbständige Form der Anämie im frühen Kindersalter. Verh Deut Ges Kinderh, 1911,119-24.
- ↑ Jablonski, Stanley (1991). Jablonski's dictionary of syndromes & eponymic diseases. Krieger Pub. Co. ISBN 978-0-89464-224-1
