Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Synonyms: Autosomal recessive intellectual disability due to TRAPPC9 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare syndromic intellectual disability primarily characterized by moderate to severe intellectual disability true-to-relative microcephaly and brain abnormalities including a thin corpus callosum cerebellar hypoplasia cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly round face straight eyebrows synophrys hypertelorism epicanthus wide and depressed nasal bridge protruding ears with uplifted lobe downslanting corners of the mouth) are additional features.
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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Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?
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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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.