Bainbridge-Ropers syndrome

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Synonyms: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly severe feeding difficulties failure to thrive severe global development delay that frequently results in absent/poor speech moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead high-arched thin eyebrows hypertelorism downslanting palpebral fissures long tubular nose with broad tip and prominent nasal bridge and wide mouth with full everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.

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 June 2024

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