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

Disease definition

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is 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 profound intellectual disability, hypotonia and a distinctive facies that includes 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.

ORPHA:352577

Classification level: Disorder
  • Synonym(s):
    • Bainbridge-Ropers syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 615485
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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