Important
It is possible that the main title of the report Filippi Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
General Discussion
Filippi syndrome is a rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation. Primary physical findings include growth delays, an abnormally small head (microcephaly), webbing or fusion (syndactyly) of certain fingers and toes, and inward deviation or bending (clinodactyly) of the fifth fingers ("pinkies"). Filippi syndrome is transmitted as an autosomal recessive trait.
.
Resources
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/100000409 or http://rarediseases.info.nih.gov/html/resources/info_cntr.html
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 11/21/2002
Copyright 1994, 2000, 2002 National Organization for Rare Disorders, Inc.
© 1995-2007, Healthwise, Incorporated, P.O. Box 1989, Boise, ID 83701. ALL RIGHTS RESERVED.
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information. For more information, click here. Privacy Policy. How this information was developed.

