Mulvihill Smith Syndrome
It is possible that the main title of the report Mulvihill Smith Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- progeriod short stature with pigmented nevi
Mulvihill-Smith syndrome is an extremely rare 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) areas, 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. All reported cases of Mulvihill-Smith syndrome have occurred as isolated cases. It is possible that this condition is due to a new dominant gene mutation.
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