Laryngo-onycho-cutaneous syndrome

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| name = Laryngoonychocutaneous syndrome

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| image = Autosomal recessive - en.svg

| caption = This condition is inherited in an autosomal recessive manner.

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| field = Dermatology

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Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion.{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=712 |isbn=978-1-4160-2999-1 }}{{Cite journal|last1=Bardhan|first1=Ajoy|last2=Bruckner-Tuderman|first2=Leena|last3=Chapple|first3=Iain L. C.|last4=Fine|first4=Jo-David|last5=Harper|first5=Natasha|last6=Has|first6=Cristina|last7=Magin|first7=Thomas M.|last8=Marinkovich|first8=M. Peter|last9=Marshall|first9=John F.|last10=McGrath|first10=John A.|last11=Mellerio|first11=Jemima E.|date=2020-09-24|title=Epidermolysis bullosa|url=https://www.nature.com/articles/s41572-020-0210-0|journal=Nature Reviews Disease Primers|language=en|volume=6|issue=1|page=78|doi=10.1038/s41572-020-0210-0|pmid=32973163|s2cid=221861310|issn=2056-676X}} It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous").{{Cite web|title=Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics|url=https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/|access-date=2020-11-01|website=medlineplus.gov|language=en}} The disorder is only found in Punjabi Muslims and only a few cases have been reported.{{Cite journal|last=McLean|first=W. H. I.|date=2003-07-15|title=An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome|journal=Human Molecular Genetics|language=en|volume=12|issue=18|pages=2395–2409|doi=10.1093/hmg/ddg234|pmid=12915477|issn=1460-2083|doi-access=}}

It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002)[http://www.jpad.com.pk/index.php/jpad/article/download/403/378 Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.] in 1986.Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.{{OMIM|245660}}

It may be associated with LAMA3.{{cite journal |vauthors=McLean WH, Irvine AD, Hamill KJ, etal |title=An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome |journal=Hum. Mol. Genet. |volume=12 |issue=18 |pages=2395–409 |date=September 2003 |pmid=12915477 |doi=10.1093/hmg/ddg234 |doi-access= }}