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

Two new cases with Costello syndrome.
 

Author(s): Sema Aytekin, Gokcen Alyamac

Journal:

 

Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising short stature, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and mental retardation. Several additional ...

Last Updated: 11 Sep 2013

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Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.
 

Author(s): David D Schwartz, Jennifer M Katzenstein, Elisabeth Hopkins, Deborah L Stabley, Katia Sol-Church, Karen W Gripp, Marni E Axelrad

Journal: Am. J. Med. Genet. A. 2013 Sep;161A(9):2258-65.

 

Costello syndrome (CS) is a rare genetic disorder caused by germline mutations in the HRAS proto-oncogene which belongs to the family of syndromes called rasopathies. HRAS plays a key role in synaptic long-term potentiation (LTP) and memory formation. Prior research has found impaired ...

Last Updated: 15 Aug 2013

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Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
 

Author(s): Sybille Lorenz, Christina Lissewski, Pelin O Simsek-Kiper, Yasemin Alanay, Koray Boduroglu, Martin Zenker, Georg Rosenberger

Journal: Hum. Mol. Genet.. 2013 Apr;22(8):1643-53.

 

Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused by heterozygous germline HRAS mutations mostly affecting Gly(12) ...

Last Updated: 25 Mar 2013

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways
 

Status: Recruiting

Condition Summary: Atopic Dermatitis; Netheron's Syndrome; Piebaldism; Hyper IgE Syndrome; Ichthyosis; Anaphylaxis; Severe Allergy

 

Last Updated: 21 Jun 2014

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Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation
 

Status: Recruiting

Condition Summary: Piebaldism; Idiopathic Anaphylaxis; Allergy; Chronic Urticara; Angioedema

 

Last Updated: 11 Jun 2014

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