1. Diseases
  2. Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome

Disease Export to PDF
Name:
Abruzzo-Erickson syndrome
Description:
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
ORPHAcode:
921
Synonyms:
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
TBX22
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14