Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
A rare genetic primary bone dysplasia disorder characterized by short stature hyperlordosis protuberant abdomen mild bilateral genu varum bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead hypertelorism flat nasal bridge). Radiographically moderate platyspondyly including posterior wedging with anterior bullet-shaped vertebral bodies with minimal metaphyseal abnormalities are observed.
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
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Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism 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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