FaCD Online Syndrome Fact Sheet
Last updated: 24 Dec 2000
Name: Mulvihill-Smith syndrome
Synonym: Progeroid Short Stature with Pigmented Nevi
Mode of Inheritance: ?
Tumor featuresangiokeratoma
Tumor features (possible)gastric cancer
Non-tumor featureschin, triangular cutaneous telangiectasia developmental delay/mental deficiency/mental retardation hearing loss, neurosensory hypospadia immunodeficiency keratoconus microcephaly nails, small, dysplastic nevi nose, beaked palpebral fissures, downward slanting scoliosis short stature
Comment
The features of progeria-like disorder include short stature, mental deficiency, typical bird-like facies and multiple nevi. Virtually all patients are males. Bartsch et al.[1] reported on a male with Mulvihill-Smith syndrome, who had been diagnosed with diffuse type gastric cancer (signet ring cells) at the age of 23 years.
References
[1] Bartsch O, Schwinger DLE, Tympner KD. Severe complications and gastric carcinoma in Mulvihill-Smith syndrome. J Med Genet 36, 175. 1999.
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