Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Engelsk navn: Bainbridge-Ropers syndrome
Engelske synonym: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 352577
Klassifiseringsnivå: Disorder
ICD-10: Q87.0
