Spondyloepimetaphyseal dysplasia, PAPSS2 type

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Synonyms: Spondyloepimetaphyseal dysplasia, Pakistani type

Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type is characterized by short stature short and bowed lower limbs mild brachydactyly kyphoscoliosis abnormal gait enlarged knee joints precocious osteoarthropathy and normal intelligence.

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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Spondyloepimetaphyseal dysplasia, PAPSS2 type?

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Clinical Trials

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