U.S. flag

An official website of the United States government

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

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.