Filippi Syndrome

Common Name(s)

Filippi Syndrome

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.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Filippi Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Filippi Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
 

Author(s): Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller, Holger Thiele, Gudrun Nürnberg, Shahida Moosa, Gökhan Yigit, Filippo Beleggia, Sigrid Tinschert, Jill Clayton-Smith, Pradeep Vasudevan, Jill E Urquhart, Dian Donnai, Alan Fryer, Ferda Percin, Francesco Brancati, Angus Dobbie, Robert Smigiel, Gabriele Gillessen-Kaesbach, Bernd Wollnik, Angelika Anna Noegel, William G Newman, Peter Nürnberg

Journal: Am. J. Hum. Genet.. 2014 Nov;95(5):622-32.

 

Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual ...

Last Updated: 2 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Filippi Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Filippi syndrome: a new case with skeletal abnormalities.
 

Author(s): D Héron, T Billette de Villemeur, A Munnich, S Lyonnet

Journal: J. Med. Genet.. 1995 Aug;32(8):659-61.

 

We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple ...

Last Updated: 7 Dec 1995

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.