CREST Syndrome

Common Name(s)

CREST Syndrome

CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs.  The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.

(C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result.

(R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.

(E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.

(S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.

(T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.

It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease.  Some doctors believe only two of the five are necessary for a diagnosis.

 

Advocacy and 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 "CREST 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 "CREST Syndrome" returned 44 free, full-text research articles on human participants. First 3 results:

A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome.
 

Author(s): Ayhan Abaci, Gonul Catli, Erhan Bayram, Tolga Koroglu, Hatice Nur Olgun, Kamer Mutafoglu, Ayse Semra Hiz, Handan Cakmakci, Ece Bober

Journal: Endocr Pract. ;19(1):e12-6.

 

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, ...

Last Updated: 25 Feb 2013

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Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
 

Author(s): Janneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, Mariëlle E M Swinkels, Christian Gilissen, Michèl A Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A Veltman, Bert B A de Vries, Hans van Bokhoven, Arjan P M de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G Brunner

Journal: Am. J. Hum. Genet.. 2012 Dec;91(6):1122-7.

 

We studied two unrelated boys with intellectual disability (ID) and a striking facial resemblance suggestive of a hitherto unappreciated syndrome. Exome sequencing in both families identified identical de novo mutations in PACS1, suggestive of causality. To support these genetic findings ...

Last Updated: 10 Dec 2012

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Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis.
 

Author(s): Chris Barnett, Oya Yazgan, Hui-Ching Kuo, Sreepurna Malakar, Trevor Thomas, Amanda Fitzgerald, William Harbour, Jonathan J Henry, Jocelyn E Krebs

Journal: Mech. Dev.. ;129(9-12):324-38.

 

Williams Syndrome Transcription Factor (WSTF) is one of ∼25 haplodeficient genes in patients with the complex developmental disorder Williams Syndrome (WS). WS results in visual/spatial processing defects, cognitive impairment, unique behavioral phenotypes, characteristic "elfin" ...

Last Updated: 22 Oct 2012

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

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.
 

Author(s): Paul A Trainor

Journal: Am. J. Med. Genet. A. 2010 Dec;152A(12):2984-94.

 

Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a ...

Last Updated: 25 Nov 2010

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[Granulomatous uveitis and CREST syndrome: a case study].
 

Author(s): M Courtade, J J Gicquel, M Mercie, B Vabres, P Dighiero

Journal: J Fr Ophtalmol. 2004 Oct;27(8):918-20.

 

To report a case of recurrent granulomatous panuveitis associated with CREST syndrome.

Last Updated: 19 Nov 2004

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Progressive interstitial renal fibrosis due to Chinese herbs in a patient with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome.
 

Author(s): E Nishimagi, Y Kawaguchi, C Terai, H Kajiyama, M Hara, N Kamatani

Journal: Intern. Med.. 2001 Oct;40(10):1059-63.

 

A 58-year-old woman with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome presented with slowly progressive renal dysfunction. She was normotensive with normal plasma renin activity and lacking symptoms of vasculitis. Mild proteinuria was of tubular origin, ...

Last Updated: 1 Nov 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft
 

Status: Recruiting

Condition Summary: Upper Limb Surgery; Iliac Crest Bone Harvest

 

Last Updated: 25 Apr 2012

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Filling of Tooth Sockets With MBCP Gel TM Versus Technical Without Filling
 

Status: Recruiting

Condition Summary: Alveolar Crest

 

Last Updated: 1 Jun 2010

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