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Spondyloepimetaphyseal dysplasia, PAPSS2 type

rare

A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

Identifiers
MONDO:0019666 OMIM:612847Orphanet:93282
Causal genes
PAPSS2
Part of
Inborn errors of metabolismMineral metabolism diseaseSpondyloepimetaphyseal dysplasia
Also known as
BCYM4 · brachyolmia 4 with mild epiphyseal and metaphyseal changes · brachyolmia type 4 with mild epiphyseal and metaphyseal changes · spondyloepimetaphyseal dysplasia, Pakistani type

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