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Progeria-short stature-pigmented nevi syndrome

ORPHA:2959· ICD-10 Q87.1

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described.

Prevalence
<1 / 1 000 000
Inheritance
Unknown
Age of onset
Infancy, Neonatal