Cerebro Facio Thoracic Dysplasia

Common Name(s)

Cerebro Facio Thoracic Dysplasia

Cerebro Facio Thoracic Dysplasia, also known as Pascual-Castroviejo syndrome type 1, is a rare set of birth defects, or a syndrome. This syndrome is characterized by facial abnormalities, intellectual disabilities, and costovertebral (joints that connect the ribs to the spine) abnormalities. Facial abnormalities may include: flat head syndrome (brachycephaly), wide set eyes (hypertelorism), broad nasal bridge, triangular shaped mouth, large space between the nose and mouth, or undersized jaw (micrognathia). Costovertebral abnormalities are always present and may include: short or fused ribs, and misshaped vertebrae or ribs. The level of intellectual deficit varies case-to-case, and doctors can seek help from various therapists and community services to provide support and care for families affected by intellectual disability. Physical examinations and ultrasounds can diagnose this syndrome. Roughly 13 cases have been reported, and this syndrome is believed to be autosomal recessive, which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebro Facio Thoracic Dysplasia" 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 "Cerebro Facio Thoracic Dysplasia" returned 1 free, full-text research articles on human participants. First 3 results:

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
 

Author(s): Davut Pehlivan, Ender Karaca, Hatip Aydin, Christine R Beck, Tomasz Gambin, Donna M Muzny, B Bilge Geckinli, Ali Karaman, Shalini N Jhangiani, , Richard A Gibbs, James R Lupski

Journal: Eur. J. Hum. Genet.. 2014 Sep;22(9):1145-8.

 

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that ...

Last Updated: 14 Aug 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 "Cerebro Facio Thoracic Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.