Progeroid and marfanoid aspect-lipodystrophy syndrome
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly proptosis downslanting palpebral fissures retrognathia) generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.
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 April 2024
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Progeroid and marfanoid aspect-lipodystrophy syndrome?
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