Progeria-short stature-pigmented nevi syndrome

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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 http://www.orphadata.org. Data version July 2024

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Clinical Trials

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