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Syndromes

Syndromes - Term Definition Crouzon Syndrome Bilateral...

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Term: Crouzon Syndrome Definition: Bilateral closure of the coronal suture normal IQ and normal hands and feet Term: Apert syndrome Definition: Premature closure of multiple sutures associated with syndactyly (mitten hands)low IQ Term: Carpenter syndrome Definition: Multiple fusions of the sutures syndactyly mental retardation congenital heart disease orthopedic abnormalities and corneal capacities Term: Waardenburg Syndrome Definition: Major:sensorineural hearing loss ,iris pigment different colors, white forelock
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Term: Branchio-oto-renal Definition: Autosomal dominant Hypoplastic or absent kidneys with resultant renal failure,Preauricular tags malformation the outer ear or middle ear, hearing loss embryologic branchial cleft Term: Jervell and Lange Nielsen Syndrome Definition: Prolonged QT Syndrome and sensorineural hearing loss syncope and history of hearing loss Term: Rett Syndrome Definition: Early development up to age 5 months is normal then head circumference growth dramatically declines with the respiratory dysfunction severe cycle motor retardation loss of limb function; seizure, ataxia, hand wringing; autistic features, ALMOST EXCLUSIVELY in GIRLS. due to a mutation in the MECP2 gene Term: Wiskott-aldrich Syndrome Definition: EXIT Eczema, X-linked, immunodeficiency, and thrombocytopenia, Small platelets. Tx:bone marrow tramsplant
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Term: Ataxia Telengiectasia Definition: Cerebellar ataxia both by 5 y/o Occulocutaneous telengiectasia. Sinopulmonary disease, elevated AFP and CEA. High risk of ,alignany Term: Bloom syndrome Definition: Small stature, telengiectasia, CNS. Abnormalities, immunodeficiencies. Hi association with leukemias Term: PHACE Syndrome Definition: Posterior fossa abnormalities (dandy walker) Hemangioma (large cervicofacial) Arterial amolies Cardiac defects (coarctation of the aorta) Eye abnormalities (micropthalmia) Term: Sturge-weber Syndrome Definition: Ipsilateral cerebral vascular malformation Neurologic complications:, seizures mental retardation, hemiplegia glaucoma
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Term: Crest Syndrome Definition: Sclerosis of the fingers, telengiectasia, calcinosis cutis (tender nodules on fingers), raynaud syndrome Term: Hall-pallister Definition: Absence of pituitary gland, Post axial polydactyly, Nail dysplasia, Bifid epiglottis, Imperforate anus, Heart lung and kidney anomalies Term: Reiger Syndrome Definition: Deficiency of anterior pituitary hormones with classic findings of colobomas of the iris Glaucoma kidney G.I. umbilical anomaly Term: Silver-russel. Syndrome Definition: Short stature, frontal bossing, triangular face, shortened and incurved fifth fingers and asymmetry. Low birth weight.
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Term: Sotos Syndrome Definition: Rapid growth early in childhood with no evidence of an endocrine disorder. One above 90th percent grow rapidly in the first year of life to greater than 97%. Growth hormone normal Term: Beckwith-Wiedenman Syndrome Definition: Excess IGF-2. Fetal overgrowth & hypertrophy of organs. Macroglossis, organomegaly, nephrimegaly, pancreatic B cell hyperplasia (excess insulin;hypogly). Predisposed to
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