Medicine:Santos-Mateus-Leal syndrome
| Santos-Mateus-Leal syndrome | |
|---|---|
| Other names | Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness.[1] |
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| Specialty | Medical genetics |
| Symptoms | Gastrointestinal, limb, kidney, and hearing abnormalities |
| Usual onset | Postnatal |
| Duration | Life-long |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare, only 2 cases have been described in medical literature |
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 Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss.[2][3] Only 2 cases have been described in medical literature.[4]
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.[5]
References
- ↑ "CISMeF". https://www.cismef.org/page/detail/en/MSH_SC_537235.
- ↑ "Santos Mateus Leal syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/157/santos-mateus-leal-syndrome.
- ↑ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Santos Mateus Leal syndrome" (in es). 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.
- ↑ "OMIM Entry - 235740 - HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS" (in en-us). https://www.omim.org/entry/235740#1.
- ↑ Santos, H.; Mateus, J.; Leal, M. J. (March 1988). "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome". Journal of Medical Genetics 25 (3): 204–205. doi:10.1136/jmg.25.3.204. ISSN 0022-2593. PMID 3351909.
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