Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Synonyms: SMD-corneal dystrophy syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement narrow chest abnormalities of the spine pelvis and metaphyses corneal clouding and patent ductus arteriosus. Dysmorphic facial features include hypertelorism prominent eyes depressed nasal bridge and short upturned nose.
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
Spondylometaphyseal dysplasia-corneal dystrophy syndrome?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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To fund research for treatment and/or a cure for CASK Gene Disorder
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
For a list of clinical trials in this disease area, please click here.