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]
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