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.
Mulvihill-Smith syndrome is an extremely rare disorder characterized by low birth weight; an abnormally small head (microcephaly) and/or body; and progressive growth delays resulting in short stature (dwarfism). Affected individuals may also exhibit characteristic facial malformations, additional physical abnormalities, and/or mild to moderate mental retardation. The range and severity of symptoms vary from case to case.
Individuals with Mulvihill-Smith syndrome exhibit characteristic abnormalities of the head and facial (craniofacial) area. Many individuals may lack the layer of fatty tissue directly beneath the skin of the face (facial subcutaneous fat), resulting in a prematurely aged or “bird-like” facial appearance. In addition, affected individuals may have an abnormally small face; severely underdeveloped jaws (marked micrognathia); a small, pointed chin; and/or absence of several teeth (oligodontia). Infants and children with Mulvihill-Smith syndrome also typically exhibit deeply-colored skin lesions like freckles or warts (pigmented nevi) on the skin of the face, neck, hands, trunk, and/or other parts of the body.
Some individuals with Mulvihill-Smith syndrome may also exhibit a variety of additional abnormalities. Affected individuals may experience hearing loss (sensorineural), particularly involving sounds that are highly-pitched. They may also have difficulty learning to speak and/or may have unusually high-pitched voices. Although some individuals with the disorder may have normal intelligence others, may exhibit mild, moderate, or severe mental retardation.
In addition, some affected individuals may exhibit other unusual physical characteristics. For example, affected children may demonstrate abnormal sideways curvature of the spine involving the chest (thoracic scoliosis) and/or impaired joint mobility. Some affected males may exhibit genital abnormalities, such as abnormal placement of the urinary opening (meatus) on the underside of the penis (hypospadias), causing the penis to point downward (chordee). In addition, some affected individuals may experience episodes of recurrent vomiting (cyclic vomiting). This repeated vomiting may result in damage to the tube that carries food from the mouth to the stomach (esophageal ulceration).
In some cases, individuals with Mulvihill-Smith syndrome may also develop an increased susceptibility to repeated respiratory and other infections (primary immunodeficiency). In addition, abnormal protrusion of the front (anterior), clear portion of the eye through which light passes (cornea) (keratoconus) has been identified, in at least one case, as an incidental finding.
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.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Mulvihill-Smith syndrome is an extremely rare disorder that, in theory, affects males and females in equal numbers. Most of the reported cases, however, have been males. Only seven cases have been reported.
The diagnosis of Mulvihill-Smith Syndrome may be suspected upon the identification of characteristic physical features and findings (e.g., low birth weight, lack of subcutaneous fat in the face, etc.). A diagnosis may be confirmed based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. For example, hearing tests may be performed to determine the range and severity of hearing impairment in each individual. Pigmented nevi may be present at birth (congenital) or shortly after birth. Other characteristic findings (e.g., short stature) may not be apparent until a child is older.
The treatment of Mulvihill-Smith Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians; physicians who diagnose and treat abnormalities of the skin (dermatologists); speech pathologists; specialists who assess and treat hearing problems (audiologists); specialists who diagnose and treat skeletal abnormalities; and other health care professionals may need to systematically and comprehensively plan an affected child's treatment.
Specific therapies for the treatment of Mulvihill-Smith Syndrome are symptomatic and supportive. Genetic counseling may be of benefit for affected individuals and their families.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
Gorlin RJ, Cohen MMJr, Levin LS. Eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:487-88.
Winter RM, Baraitser M. Multiple Congenital Anomalies. Chapman & Hall Medical. London, UK. 1991:424.
Lehmann A. Ageing: repair and transcription keep us from premature ageing. Curr Biol. 2002;12:R550-51.
Martin GM, Oshima J. Lessons from human progeroid syndromes. Nature. 2000;408:263-66.
Bartsch O, Ludwig D, Schwinger E, et al. Severe complications and gastric carcinoma in Mulvihill- Smith syndrome. J Med Genet. 1999;36:175.
De Silva, Wheatley DN, Herriot R, et al. Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet. 1997;69:56-64.
FROM THE INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Progeroid Short Stature with Pigmented Nevi. Entry Number; 176690: Last Edit Date; 5/11/1999.
Mulvihill-Smith syndrome. Multiple Congenital Analogy/Mental Retardation (MCA/MR) Syndromes. nd. 2pp.
SignList. Progeria short stature pigmented nevi. orphanet. nd. 1p.