Santos–Mateus–Leal syndrome

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]

Santos–Mateus–Leal syndrome
Other namesHirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness.[1]
SpecialtyMedical genetics
SymptomsGastrointestinal, limb, kidney, and hearing abnormalities
Usual onsetPostnatal
DurationLife-long
Preventionnone
PrognosisGood
Frequencyvery rare, only 2 cases have been described in medical literature

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

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  1. ^ "CISMeF".
  2. ^ "Santos Mateus Leal syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-30.
  3. ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Santos Mateus Leal syndrome". www.orpha.net (in Spanish). Retrieved 2022-05-30.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ^ "OMIM Entry - 235740 - HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS". www.omim.org. Retrieved 2022-05-30.
  5. ^ 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.