Overgrowth syndrome with 2q37 translocation

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A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations such as scoliosis macrodactyly of the big toes arachnodactyly of fingers and toes camptodactyly and clinodactyly and progressive valgus deformities of the feet. Epimetaphyseal dysplasia bowing of the tibiae and dysmorphic facial features (hypertelorism high palate or micrognathia) as well as aortic root dilatation and umbilical hernia have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Overgrowth syndrome with 2q37 translocation?

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