Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
A rare primary bone dysplasia characterized by intrauterine growth retardation pre- and postnatal disproportionate short stature with short rhizomelic limbs facial dysmorphism a short neck and small thorax. Hypotonia cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported including ribs with cupped ends platyspondyly square iliac bones horizontal and trident acetabula hypoplastic ischia and delayed epiphyseal ossification.
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 November 2023
Newly diagnosed with
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type?
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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.
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