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Spondyloperipheral dysplasia-short ulna syndrome

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Description

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

12

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Genes

External Links

  • OMIM

    271700

  • Orphanet

    1856

  • HPO
  • Medgen

    C0796173

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