Synonyms: SOX5 haploinsufficiency syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay variable degrees of intellectual disability and dysmorphic facial features (such as frontal bossing epicanthal folds strabismus depressed nasal bridge short philtrum auricular abnormalities micrognathia or crowded teeth among others). Additional reported manifestations are behavioral problems (stereotypies aggression anxiety autism spectrum disorder) skeletal anomalies (scoliosis pectus carinatum clinodactyly of fingers and toes among others) and seizures.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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