Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

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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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