Potocki-Shaffer syndrome

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Synonyms: 11p11.2 deletion | Proximal 11p deletion syndrome

A rare partial autosomal monosomy characterized by global developmental delay intellectual disability multiple cartilaginous exostoses and craniofacial anomalies (such as brachycephaly biparietal foramina large fontanels craniosynostosis ptosis epicanthic folds prominent nasal bridge with broad depressed nasal tip hypoplastic nares short philtrum downturned upper lip and micrognathia). Additional reported features include behavioral abnormalities myopia strabismus and sensorineural hearing loss among others.

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 May 2024

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Potocki-Shaffer syndrome?

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