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

CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
 

Author(s): Hironobu Okuno, Francois Renault Mihara, Shigeki Ohta, Kimiko Fukuda, Kenji Kurosawa, Wado Akamatsu, Tsukasa Sanosaka, Jun Kohyama, Kanehiro Hayashi, Kazunori Nakajima, Takao Takahashi, Joanna Wysocka, Kenjiro Kosaki, Hideyuki Okano

Journal:

 

CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest formation during embryogenesis. To better delineate neural ...

Last Updated: 31 Dec 1969

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UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
 

Author(s): Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 10;114(43):E9046-E9055.

 

Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. ...

Last Updated: 31 Dec 1969

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EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
 

Author(s): Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz Carlos de Caires, Ernesto Goulart, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver

Journal: Hum. Mol. Genet.. 2017 06;26(12):2177-2191.

 

Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome ...

Last Updated: 31 Dec 1969

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

Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration.
 

Author(s): Erin L Rutherford, Laura Anne Lowery

Journal: Dev. Biol.. 2016 Dec;420(1):1-10.

 

Wolf-Hirschhorn Syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying ...

Last Updated: 31 Dec 1969

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Neural crest development in fetal alcohol syndrome.
 

Author(s): Susan M Smith, Ana Garic, George R Flentke, Mark E Berres

Journal: Birth Defects Res. C Embryo Today. 2014 Sep;102(3):210-20.

 

Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Some affected individuals possess distinctive craniofacial deficits, but many more lack overt facial changes. An understanding of the mechanisms underlying these deficits would inform their ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Standardizing Emergency Work-ups Around Risk Data
 

Status: Recruiting

Condition Summary: Acute Coronary Syndrome; Chest Pain; Risk Reduction

 

Last Updated: 24 Jul 2018

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Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
 

Status: Recruiting

Condition Summary: Congenital Central Hypoventilation Syndrome; Congenital Central Hypoventilation; CCHS; CCHS With Hirschsprung Disease; CCHS With Neural Crest Tumor; CCHS With Neuroblastoma

 

Last Updated: 5 Jul 2018

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