Abruzzo-Erickson syndrome

Other Names: CHARGE like syndrome X-linked See more

Categories: Congenital and Genetic Diseases, Ear, Nose, and Throat Diseases, Kidney and Urinary Diseases, Mouth Diseases

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Description

Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from mutations in the TBX22 gene. The condition is inherited in an X-linked recessive manner. Treatment is generally aimed at addressing the symptoms present in each individual.

Source: GARD Last updated on 05-01-20

Symptoms

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:

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).

Last updated on 05-01-20

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

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).

Last updated on 05-01-20

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