Frank Ter Haar Syndrome

Common Name(s)

Frank Ter Haar Syndrome

Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Frank Ter Haar 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 "Frank Ter Haar Syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
 

Author(s): Charlotte L Bendon, Aimée L Fenwick, Jane A Hurst, Gudrun Nürnberg, Peter Nürnberg, Steven A Wall, Andrew O M Wilkie, David Johnson

Journal:

 

Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome ...

Last Updated: 31 Dec 2012

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Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.
 

Author(s): Gábor Bögel, Annamária Gujdár, Miklós Geiszt, Árpád Lányi, Anna Fekete, Szabolcs Sipeki, Julian Downward, László Buday

Journal: J. Biol. Chem.. 2012 Sep;287(37):31321-9.

 

Mutations in the SH3PXD2B gene coding for the Tks4 protein are responsible for the autosomal recessive Frank-ter Haar syndrome. Tks4, a substrate of Src tyrosine kinase, is implicated in the regulation of podosome formation. Here, we report a novel role for Tks4 in the EGF signaling ...

Last Updated: 10 Sep 2012

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Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
 

Author(s): Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz-Lozano, M Cecilia Scimia, James D Lindsey, Robert Weinreb, Beate Albrecht, Andre Megarbane, Yasemin Alanay, Ziva Ben-Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A Veltman, Ellen van Beusekom, Astrid Oudakker, José Luis Millán, Raoul Hennekam, Ben Hamel, Sara A Courtneidge, Hans van Bokhoven

Journal: Am. J. Hum. Genet.. 2010 Feb;86(2):254-61.

 

Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. We have conducted homozygosity mapping on ...

Last Updated: 17 Feb 2010

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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 "Frank Ter Haar Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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