Santos–Mateus–Leal syndrome | |
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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
[edit]- ^ "CISMeF".
- ^ "Santos Mateus Leal syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-30.
- ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Santos Mateus Leal syndrome". www.orpha.net (in Spanish). Retrieved 2022-05-30.
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: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - 235740 - HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS". www.omim.org. Retrieved 2022-05-30.
- ^ 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. PMC 1015489. PMID 3351909.