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Синдром прогерії-низькорослості-пігментних невусів

ORPHA:2959· ICD-10 Q87.1· Progeria-short stature-pigmented nevi syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Infancy, Neonatal