Microcephalic primordial dwarfism, Dauber type

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Microcephalic primordial dwarfism Dauber type is a rare genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation severe microcephaly severe developmental delay and intelletual disability severe adult short stature and facial dysmorphism (incl. hypotelorism small ears prominent nose). Other reported features include skeletal anomalies (Madelung deformity clinodactyly mild lumbar scoliosis bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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