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Abruzzo-Erickson syndrome

Disease definition

Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma (see this term), hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis (see this term).

ORPHA:921

  • Synonym(s):
    • CHARGE-like syndrome
    • Cleft palate-coloboma-deafness syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.8
  • OMIM: 302905
  • UMLS: C1844862
  • MeSH: C535559
  • GARD: 360
  • MedDRA: -

Additional information

Specialised Social Services

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