SPONASTRIME dysplasia

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Synonyms: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia | Spondyloepimetaphyseal dysplasia, Sponastrime type

A rare genetic spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly frontal bossing midface hypoplasia depressed nasal root small upturned nose prognathism) and abnormal radiological findings which include abnormal vertebral bodies (particularly in the lumbar region) striated metaphyses generalized mild osteoporosis and delayed ossification of the carpal bones. Progressive coxa vara short dental roots hypogammaglobulinemia and cataracts may be occasionally associated.

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 June 2024

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