View source for Medicine:Santos-Mateus-Leal syndrome

{{Infobox medical condition
 |name            = Santos-Mateus-Leal syndrome 
 |synonyms        = Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness.<ref>{{cite web | url=https://www.cismef.org/page/detail/en/MSH_SC_537235 | title=CISMeF }}</ref>
 |image           = Autorecessive.svg
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 |specialty       = Medical genetics
 |symptoms        = Gastrointestinal, limb, kidney, and hearing abnormalities
 |complications   = 
 |onset           = Postnatal
 |duration        = Life-long
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 |prevention      = none
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 |prognosis       = Good
 |frequency       = very rare, only 2 cases have been described in medical literature
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'''Santos-Mateus-Leal syndrome''', also known as '''Hirschsprung's disease-deafness-polydactyly syndrome''' is a very rare autosomal recessive limb malformation which is characterized by [[Medicine:Hirschsprung's disease|Hirschsprung's disease]], feet and hand polydactyly, unilateral [[Medicine:Renal agenesis|renal agenesis]], and congenital [[Medicine:Hearing loss|hearing loss]].<ref>{{Cite web |title=Santos Mateus Leal syndrome - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/157/santos-mateus-leal-syndrome |access-date=2022-05-30 |website=rarediseases.info.nih.gov |language=en}}</ref><ref>{{Cite web |last=RESERVADOS |first=INSERM US14-- TODOS LOS DERECHOS |title=Orphanet: Santos Mateus Leal syndrome |url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=2054&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2155&Disease(s)/group%20of%20diseases=Santos-Mateus-Leal-syndrome&title=Santos-Mateus-Leal-syndrome&search=Disease_Search_Simple |access-date=2022-05-30 |website=www.orpha.net |language=es}}</ref> Only 2 cases have been described in medical literature.<ref>{{Cite web |title=OMIM Entry - 235740 - HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS |url=https://www.omim.org/entry/235740#1 |access-date=2022-05-30 |website=www.omim.org |language=en-us}}</ref>

It was first discovered by ''Santos et al.'', when they described 2 siblings of the opposite sex born to consanguineous, first-cousin parents with the symptoms mentioned above, they (Santos et al.) came to the conclusion that this case was part of a separate novel syndrome different from a previous case report which described 2 male babies with Hirschsprung's disease, polydactyly and ventricular septal defect. This disorder is inherited in an autosomal recessive manner.<ref>{{Cite journal |last1=Santos |first1=H. |last2=Mateus |first2=J. |last3=Leal |first3=M. J. |date=March 1988 |title=Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome |journal=Journal of Medical Genetics |volume=25 |issue=3 |pages=204–205 |doi=10.1136/jmg.25.3.204 |issn=0022-2593 |pmc=1015489 |pmid=3351909}}</ref>

== References ==
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[[Category:Genetic diseases and disorders]]
[[Category:Autosomal recessive disorders]]

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