Spondylometaphyseal dysplasia, Schmidt type

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Synonyms: Spondylometaphyseal dysplasia with severe genu valgum | Spondylometaphyseal dysplasia, Algerian type

Spondylometaphyseal dysplasia Schmidt type is characterized by short stature myopia small pelvis progressive kypho-scoliosis wrist deformity severe genu valgum short long bones and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

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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