Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

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A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth accelerated bone age in infancy and early childhood tall stature bony overgrowth of the skull base spondylar dysplasia and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism depressed nasal bridge short and broad nose and full lower lip. Additional reported features are scoliosis as well as delayed puberty cryptorchidism and hypospadias.

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 June 2024

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