Disease Information for Mulvihill-Smith Syndrome

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Clinical Manifestations
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High-pitched voice
Disease Mechanism & Classification
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Definition

Mulvihill Smith Syndrome; progeriod short stature with pigmented nevi; Mulvihill-Smith Syndrome is an extremely rare inherited disorder characterized by low birth weight; growth delays, leading to short stature (dwarfism); and/or a prematurely aged facial appearance; Other findings may include additional abnormalities of the head and facial (craniofacial) area, multiple deeply-colored skin lesions (pigmented nevi), hearing impairment, and/or mental retardation; Eventually, some affected individuals may develop diminished capabilities to resist and fight off repeated infections (primary immunodeficiency); The range and severity of symptoms varies from case to case; Mulvihill-Smith Syndrome is thought to occur randomly, for no apparent reason (sporadically)----------------[NORD]-----------

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NEJM (The New England Journal of Medicine)
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