Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Synonyms: SED-BDS | Spondyloepiphyseal dysplasia, Cantu type | Tattoo dysplasia
Spondyloepiphyseal dysplasia Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature peculiar facies with blepharophimosis upward slanted eyes abundant eyebrows and eyelashes coarse voice and short hands and feet (brachymetacarpalia brachymetatarsalia and brachyphalangia).
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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Spondyloepiphyseal dysplasia-brachydactyly-speech disorder 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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