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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Synonyms
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; SEMD, PAKISTANI TYPE; Spondyloepimetaphyseal dysplasia, pakistani type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by Miyake et al., 2012). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATPSK2, BCYM4, SK2, PAPSS2
    Summary: 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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