Abnormalities, Multiple
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IM; do not use /compl /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific abnorm (IM); Manual 23.20.2 |
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Abnormalities (1966-1967) |
Abnormalities, Multiple Categories.
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Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNA, UMBILICAL), MACROGLOSSIA, and GIGANTISM and secondarily by visceromegaly, HYPOGLYCEMIA, and ear abnormalities. |
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Bloom Syndrome - An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. |
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Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) |
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Ectodermal Dysplasia - A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita. |
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Incontinentia Pigmenti - A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages. |
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Nail-Patella Syndrome - A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. |
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Prune Belly Syndrome - A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. |
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Smith-Lemli-Opitz Syndrome - Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. |
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Waardenburg's Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
Abnormalities, Multiple Definitions and Terms
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