Spondyloepiphyseal dysplasia, Maroteaux type

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Synonyms: Pseudo-Morquio syndrome type 2

Spondyloepiphyseal dysplasia Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses short stature appearing in infancy short neck short and stubby hands and feet scoliosis genu valgum abnormal pelvis osteoporosis and osteoarthritis.

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 July 2024

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