CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Synonyms: Snijders Blok-Campeau syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability developmental delay macrocephaly speech delay and hypotonia. Dysmorphic facial features include a high broad and/or prominent forehead laterally sparse eyebrows widely spaced and deeply-set eyes narrow palpebral fissures low-set ears full/prominent cheeks midface hypoplasia thin upper lip and a pointed chin. Additional variable manifestations include joint laxity abnormality of vision (including hypermetropia strabismus and cerebral visual impairment) genital abnormalities in males and inguinal umbilical or hiatal hernia.
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
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CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism 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
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