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Genetic and Rare Diseases Information Center (GARD)

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Filippi syndrome


Other Names for this Disease

  • Syndactyly type I with microcephaly and mental retardation
  • Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.[1][2] 
Last updated: 9/14/2011

References

  1. Filippi syndrome. Orphanet. April 2008; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2910. Accessed 9/14/2011.
  2. Battaglia A, Filippi T, Pusceddu S, Williams CA. Filippi syndrome: further clinical characterization. Am J Med Genet A. 2008; 146A(14):1848-52. http://www.ncbi.nlm.nih.gov/pubmed/18553552. Accessed 9/14/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Filippi syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Syndactyly type I with microcephaly and mental retardation
  • Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.