Mesomelia-synostoses syndrome

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Synonyms: 8q13 microdeletion syndrome | Del(8)q(13) | Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type | Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type | Monosomy 8q13 | Verloes-David syndrome

A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities distinctive facial gestalt and soft palate anomalies.

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 Data version July 2024

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