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GTR Home > Conditions/Phenotypes > Progeroid and marfanoid aspect-lipodystrophy syndrome

Progeroid and marfanoid aspect-lipodystrophy syndrome

Synonyms
MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; MARFANOID-PROGEROID SYNDROME; MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212). [from OMIM]

Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, FBN1
    Summary: fibrillin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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