" /> Escobar Syndrome - CISMeF





Preferred Label : Escobar Syndrome;

NCIt definition : A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.;

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31/07/2025


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