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.
Most effective Mulvihill Smith Syndrome treatments reported by our members
No treatments have been listed
Most severe Mulvihill Smith Syndrome symptoms reported by our members
There have been no symptoms added by our members for this condition yet.