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 September 2024
Newly diagnosed with
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.