LAMA5-related multisystemic syndrome

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A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair) retinal rod degeneration with night blindness degenerative myopathy with muscle weakness myalgia and cramps osteoarthritis joint laxity prolapse of internal organs floating kidney syndrome malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men.

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

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LAMA5-related multisystemic syndrome?

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