Macrocephaly-developmental delay syndrome
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 April 2024
Newly diagnosed with
Macrocephaly-developmental delay syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.