Microcephalic cortical malformations-short stature due to RTTN deficiency
A rare genetic neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration to cortical malformations such as pachygyria polymicrogyria reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe.
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 September 2023.
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Microcephalic cortical malformations-short stature due to RTTN deficiency?
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Advocacy Organizations
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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
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