Microcephaly-short stature-limb abnormalities syndrome
A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly intrauterine growth retardation short stature and variable limb anomalies such as radial ray defects short limbs absent/hypoplastic patellae syndactyly brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.
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 September 2023.
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Microcephaly-short stature-limb abnormalities syndrome?
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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.
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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