Progeria-short stature-pigmented nevi syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Mulvihill-Smith syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

Newly diagnosed with
Progeria-short stature-pigmented nevi syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.