Spondylometaphyseal dysplasia Sedaghatian type

Common Name(s)

Spondylometaphyseal dysplasia Sedaghatian type

Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by {8:Smith et al., 2014}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylometaphyseal dysplasia Sedaghatian type" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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The terms "Spondylometaphyseal dysplasia Sedaghatian type" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.