Macrocephaly-developmental delay syndrome

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Macrocephaly-developmental delay syndrome is a rare intellectual disability syndrome characterized by macrocephaly mild dysmorphic features (frontal bossing long face hooded eye lids with small downslanting palpebral fissures broad nasal bridge and prominent chin) global neurodevelopmental delay behavioral abnormalities (e.g. anxiety stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis fifth finger clinodactyly recurrent pneumonia and hepatosplenomegaly.

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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