Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
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 April 2024
Newly diagnosed with
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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