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GTR Home > Conditions/Phenotypes > Sponastrime dysplasia

Sponastrime dysplasia

Synonyms
SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES; Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; Spondyloepimetaphyseal dysplasia Sponastrime type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IKBR, NFKBIL2, SEMDSP, TONSL
    Summary: tonsoku like, DNA repair protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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