SPONASTRIME dysplasia
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 April 2024
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SPONASTRIME dysplasia?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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