Orphanet: Abruzzo Erickson syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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).


  • 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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.