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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.