Costello Syndrome

Common Name(s)

Costello Syndrome

Costello syndrome is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including an unusually fast heartbeat (tachycardia), structural heart defects, and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by mutations in the HRAS gene. It is considered an autosomal dominant condition, but almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.

The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome. While the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms, it can be difficult to tell them apart in infancy.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Costello Syndrome Family Network

In collaboration with others in the world we seek to 1) raise awareness of Costello syndrome; 2) provide information, support, and advocacy to families affected by CS; 3) support and advocate for CS research.

Last Updated: 16 Nov 2012

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RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

Last Updated: 6 Feb 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Costello Syndrome Family Network

In collaboration with others in the world we seek to 1) raise awareness of Costello syndrome; 2) provide information, support, and advocacy to families affected by CS; 3) support and advocate for CS research.

http://costellosyndromeusa.org/

Last Updated: 16 Nov 2012

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RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

http://rasopathiesnet.org

Last Updated: 6 Feb 2014

View Details

 

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 "Costello Syndrome" returned 45 free, full-text research articles on human participants. First 3 results:

The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model.
 

Author(s): Roseli GarcĂ­a-Cruz, Maria Camats, George A Calin, Chang-Gong Liu, Stefano Volinia, Cristian Taccioli, Carlo M Croce, Montse Bach-Elias

Journal:

 

P19 H-Ras, a second product derived from the H-Ras gene by alternative splicing, induces a G1/S phase delay, thereby maintaining cells in a reversible quiescence state. When P21 H-Ras is mutated in tumour cells, the alternative protein P19 H-Ras is also mutated. The H-Ras mutation ...

Last Updated: 3 Jul 2015

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Dysregulation of astrocyte extracellular signaling in Costello syndrome.
 

Author(s): Robert Krencik, Kenton C Hokanson, Aditi R Narayan, Jill Dvornik, Gemma E Rooney, Katherine A Rauen, Lauren A Weiss, David H Rowitch, Erik M Ullian

Journal: Sci Transl Med. 2015 May;7(286):286ra66.

 

Astrocytes produce an assortment of signals that promote neuronal maturation according to a precise developmental timeline. Is this orchestrated timing and signaling altered in human neurodevelopmental disorders? To address this question, the astroglial lineage was investigated in ...

Last Updated: 7 May 2015

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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
 

Author(s): Karen W Gripp, Katia Sol-Church, Patroula Smpokou, Gail E Graham, David A Stevenson, Heather Hanson, David H Viskochil, Laura C Baker, Bridget Russo, Nick Gardner, Deborah L Stabley, Verena Kolbe, Georg Rosenberger

Journal: Am. J. Med. Genet. A. 2015 Sep;167A(9):2085-97.

 

Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and neurologic abnormalities. More than 80% of patients share the HRAS mutation ...

Last Updated: 20 Aug 2015

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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 "Costello Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Costello syndrome.
 

Author(s): N Philip, S Sigaudy

Journal: J. Med. Genet.. 1998 Mar;35(3):238-40.

 

Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months ...

Last Updated: 1 Jun 1998

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Costello syndrome in two Brazilian children.
 

Author(s): R Pratesi, M Santos, I Ferrari

Journal: J. Med. Genet.. 1998 Jan;35(1):54-7.

 

The increasing number of children with Costello syndrome described world wide has helped in delineating further the characteristic features of this condition. We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of ...

Last Updated: 26 Mar 1998

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Costello syndrome: natural history and differential diagnosis of cutis laxa.
 

Author(s): S J Davies, H E Hughes

Journal: J. Med. Genet.. 1994 Jun;31(6):486-9.

 

Costello syndrome is emerging as a better delineated condition and should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. We present a further case of Costello syndrome which illustrates the natural ...

Last Updated: 28 Sep 1994

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.