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Spondyloepimetaphyseal dysplasia with multiple dislocations

Synonyms
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE; Spondyloepimetaphyseal dysplasia with joint laxity, type 2; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). [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: A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2, KIF22
    Summary: kinesin family member 22

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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