Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Synonyms: SEMD-MD | SEMDJL2 | Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type | Spondyloepimetaphyseal dysplasia with joint laxity type 2 | Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia short stature generalized joint laxity multiple joint dislocations (most frequently of knees and hips) limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals as well as small irregular epiphyses metaphyseal irregularities with vertical striations constricted femoral necks and mild platyspondyly among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type?
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