Medical condition
| 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 |
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| Symptoms | Gastrointestinal, limb, kidney, and hearing abnormalities |
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| Usual onset | Postnatal |
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| Duration | Life-long |
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| Prevention | none |
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| Prognosis | Good |
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| 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 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
