Progeroid Short Stature with Pigmented Nevi

Clinical Characteristics
Ocular Features: 

The presence of cataract has been reported.   One patient with keratoconus, endothelial dystrophy, and chronic conjunctivitis required a corneal transplant for a perforated ulcer.  Another individual with endothelial dystrophy, keratoconus, dry eye syndrome, and conjunctivitis developed OCT evidence of progressive retinal thickening and folding of inner retinal layers.  Retinal electrodiagnostic tests were normal.   Few patients have had complete ocular examinations, however.

Systemic Features: 

Short stature beginning in utero is characteristic and general growth parameters are usually in the third percentile.  The appearance of premature aging is suggested by a pinched bird-like facies and lack of facial subcutaneous fat.  Striking cutaneous pigmented nevi are present and may increase in number throughout life.  Joint mobility is limited to about half of normal.  The voice is often characteristically high-pitched.  Hypodontia and irregular dentition are often seen.

There may be an immunodeficiency as reflected by susceptibility to recurrent infections due to subnormal numbers of B and T cells.  Cognitive abilities are subnormal and some decline in adulthood has been reported.  Some individuals have been considered mentally retarded.  Agitation, touch hypersensitivity, depression, panic attacks, and severe insomnia may be present.  Sensorineural hearing loss is common.  Males may have hypospadias while females experience premature puberty and premature menopause.


Consanguinity among some parents suggests autosomal recessive inheritance but no locus or mutation have been identified.

Treatment Options: 

No treatnent has been reported.

Article Title: 


Tyagi P, Juma Z, Reddy AR. Retinal features in Mulvihill-Smith syndrome. Ophthalmic Genet. 2016 Jun 8:1-4.

PubMedID: 27268268

Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. Mulvihill-Smith syndrome: case report and review. J Med Genet. 1994 Sep;31(9):707-11. Review.

PubMedID: 7815440