:De Barsy syndrome

Infants have the characteristic wrinkled, inelastic skin. Their abdomens and upper side of their hands and feet have visible veins.  Their growth and development are affected. There are issues with cognitive function and speech. They may later have issues with hypermobility of joints, dislocation of their hips, foot deformity and scoliosis.{{Cite journal |last=Lin |first=Dar-Shong |last2=Chang |first2=Jui-Hsing |last3=Liu |first3=Hsuan-Liang |last4=Wei |first4=Chin-Hung |last5=Yeung |first5=Chun-Yan |last6=Ho |first6=Che-Sheng |last7=Shu |first7=Chyong-Hsin |last8=Chiang |first8=Ming-Fu |last9=Chuang |first9=Chih-Kuang |last10=Huang |first10=Yu-Wen |last11=Wu |first11=Tsu-Yen |last12=Jian |first12=Yuan-Ren |last13=Huang |first13=Zon-Darr |last14=Lin |first14=Shuan-Pei |date=December 2011 |title=Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome |url=https://pubmed.ncbi.nlm.nih.gov/22052856 |journal=American Journal of Medical Genetics. Part A |volume=155A |issue=12 |pages=3095–3099 |doi=10.1002/ajmg.a.34326 |issn=1552-4833 |pmid=22052856 |s2cid=5162012 |doi-access=free}}

Children may have prematurely aged skin; the middle of their face have underdeveloped structure and skin. Infants may have widely spaced eyes, a prominent forehead, a small, upturned nose, large, malformed ears, and widely spaced eyes.{{Cite web |last=Morava |first=Eva |date=September 22, 2015 |title=De Barsy Syndrome |url=https://rarediseases.org/rare-diseases/de-barsy-syndrome/ |website=NORD – National Organization for Rare Disorders}} Because of the rarity of the syndrome, there are no precise prevalence or incidence statistics.

Other reported features may include: intrauterine growth restriction, microcephaly, sutural bones, stiffness/mobility issues with fingers, cataract/corneal clouding.{{Cite journal |last=Dutta |first=Atanu K. |last2=Ekbote |first2=Alka V. |last3=Thomas |first3=Niranjan |last4=Omprakash |first4=Sabitha |last5=Danda |first5=Sumita |date=October 2016 |title=De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities |url=https://journals.lww.com/00019605-201610000-00011 |journal=Clinical Dysmorphology |language=en |volume=25 |issue=4 |pages=190–191 |doi=10.1097/MCD.0000000000000142 |issn=0962-8827|url-access=subscription }}

It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide.{{Cite journal |vauthors=Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G |date=April 2008 |title=De Barsy syndrome: a review of the phenotype |journal=Clinical Dysmorphology |volume=17 |issue=2 |pages=99–107 |doi=10.1097/MCD.0b013e3282f4a964 |pmid=18388779 |s2cid=42619228}} The genes that cause De Barsy syndrome have not been identified yet, although several studies have narrowed down the symptoms' cause.{{Cite journal |vauthors=Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J |date=May 2010 |title=De Barsy syndrome and ATP6V0A2-CDG |journal=European Journal of Human Genetics |volume=18 |issue=5 |pages=526; author reply 526 |doi=10.1038/ejhg.2009.218 |pmc=2987315 |pmid=20010974}} A study by Reversade et al. (2009) has shown that recessive mutations in PYCR1 or ALD18A1, the genetic sequences that codes for mitochondrial enzymes that synthesize L-proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome.{{Cite journal |display-authors=6 |vauthors=Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U |date=September 2009 |title=Mutations in PYCR1 cause cutis laxa with progeroid features |journal=Nature Genetics |volume=41 |issue=9 |pages=1016–21 |doi=10.1038/ng.413 |pmid=19648921 |s2cid=10221927}}{{Cite journal |display-authors=6 |vauthors=Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U |date=September 2015 |title=Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |journal=American Journal of Human Genetics |volume=97 |issue=3 |pages=483–92 |doi=10.1016/j.ajhg.2015.08.001 |pmc=4564990 |pmid=26320891}} A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.

Alternative names for De Barsy syndrome include cutis laxa-corneal clouding-intellectual disability syndrome, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.

Individuals are diagnosed by recognition symptoms, a thorough patient history, laboratory tests and clinical evaluation. Tests include a biopsy of the skin looking for differences in elastic fibers. Diagnosis may include molecular genetic testing. In individuals with a suspected ALDH18A1-related cases, screening for a specific purine synthesis defect could be included.

There is a focus on treating and individual's symptoms. Interprofessional care is needed and families may need multiple specialists providing care for their child. Genetic counseling and psycho-social support can also help families.

There are diseases that are like De Barsy syndrome which could be considered in any diagnosis. Examples include cutis laxa disorders, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum.

Individuals with de Barsy syndrome often need multiple surgeries.{{Cite journal |last=Warner |first=Lindsay L. |last2=Olsen |first2=David A. |last3=Smith |first3=Hugh M. |date=January 2018 |title=Clinical implications of de Barsy syndrome |url=https://pubmed.ncbi.nlm.nih.gov/29148179 |journal=Pediatric Anesthesia |volume=28 |issue=1 |pages=59–62 |doi=10.1111/pan.13283 |issn=1460-9592 |pmid=29148179 |s2cid=20004342}} Surgeries are often needed to treat skeletal, eye, or hernia issues. Skin issues may be improved with plastic surgery. Medications may be prescribed to individuals with ALDH18A1-related de Barsy syndrome. Children with De Barsy syndrome can be helped with physical therapy and early developmental intervention.

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• [https://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?term=De%20Barsy%20syndrome De Barsy Syndrome] at the United States National Library of Medicine
• [http://rarediseases.org/rare-disease-information/rare-diseases/byID/979/viewAbstract De Barsy Syndrome] {{Webarchive|url=https://web.archive.org/web/20140816190620/http://rarediseases.org/rare-disease-information/rare-diseases/byID/979/viewAbstract |date=2014-08-16 }} at the National Organization for Rare Disorders

{{Progeroid syndromes}}

Category:Genetic syndromes

Category:Autosomal recessive disorders

Category:Progeroid syndromes

Category:Rare syndromes