National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Abruzzo-Erickson syndrome

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What parts of the body does Abruzzo-Erickson syndrome effect?

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What are the signs and symptoms of Abruzzo-Erickson syndrome?

Abruzzo-Erickson syndrome is characterized by an opening in the roof of the mouth (cleft palate), a gap or split in the structures that make up the eye (ocular coloboma), abnormal location for the opening of the urethra on the penis (hypospadius), mixed conductive-sensorineural hearing loss, short stature, and an abnormal fusion of the bones of the forearm (radioulnar synostosis). Additional features may include:[1][2] 

  • large and protruding ears
  • wide spacing between the second and third fingers
  • fingers that are angled outward toward the fifth finger (ulnar deviation)
  • a slight difference in the size and shape of the right and left sides of the face (facial asymmetry)
  • dental abnormalities
  • congenital heart malformation (such as atrial septal defect)
These symptoms overlap with those seen in CHARGE syndrome, however, unlike those with CHARGE syndrome, individuals with Abruzzo-Erickson syndrome do not have intellectual disability, a narrowing or blockage of the nasal airway (choanal atresia) or underdevelopment of the genitals (genital hypoplasia).[1][2]  
Last updated: 6/24/2016

What parts of the body are affected by Abruzzo-Erickson syndrome?

The main body systems affected by Abruzzo-Erickson syndrome include: the head, ears, eyes, nose and throat (HEENT); genitourinary system (GU); and limbs (fingers).[2]






Last updated: 6/24/2016

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  1. Abruzzo M. Abruzzo-Erickson syndrome. Orphanet. July 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921.
  2. ABRUZZO-ERICKSON SYNDROME; ABERS. Online Mendelian Inheritance in Man (OMIM). May 9, 2013; http://www.omim.org/entry/302905.