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.

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.

Last Updated: 16 Nov 2012

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 46 free, full-text research articles on human participants. First 3 results:

Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.
 

Author(s): Rosalinda Calandrelli, Gabriella D'Apolito, Panfili Marco, Giuseppe Zampino, Tommaso Tartaglione, Cesare Colosimo

Journal: Neuroradiol J. 2015 Jun;28(3):254-8.

 

This study aimed to assess changes in the posterior cranial fossa (PCF) to shed light on the mechanism of cerebellar herniation in children with Costello syndrome (CS) and posterior fossa crowding. We performed a morphovolumetric PCF analysis on brain magnetic resonance imaging (MRI) ...

Last Updated: 6 Aug 2015

Go To URL
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

Go To URL
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

Go To URL

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 4 free, full-text review articles on human participants. First 3 results:

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
 

Author(s): Karen W Gripp, Elizabeth Hopkins, Daniel Doyle, William B Dobyns

Journal: Am. J. Med. Genet. A. 2010 May;152A(5):1161-8.

 

Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic ...

Last Updated: 28 Apr 2010

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.