FaCD Online Syndrome Fact Sheet

Last updated: 24 Dec 2000

Name: Mulvihill-Smith syndrome

Synonym: Progeroid Short Stature with Pigmented Nevi

Mode of Inheritance: ?

OMIM number: 176690  

Tumor features

angiokeratoma

Tumor features (possible)

gastric cancer

Non-tumor features

chin, 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.