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GTR Home > Conditions/Phenotypes > Spondyloperipheral dysplasia

Spondyloperipheral dysplasia

Synonyms
Spondyloperipheral dysplasia with short ulna; Spondyloperipheral dysplasia-short ulna syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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. [from MedlinePlus Genetics]

Available tests

73 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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