Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

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Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly failure to thrive and short stature global developmental delay and intellectual disability hypotonia dysmorphic features (short nose depressed nasal bridge low set ears short neck clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead midface retrusion epicanthal folds laterally sparse eyebrows short nose long philtrum widely spaced teeth micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema myopia strabismus hypothyroidism.

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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