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Don’t fight Abruzzo-Erickson syndrome alone.
Find your community on the free RareGuru App.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
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:
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
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Flat face |
| Somatic mosaicism |
| Redundant neck skin |
| Esotropia |
| Positive ferric chloride test |
| Cleft palate |
| Coronal hypospadias |
| Macrotia |
| Malar flattening |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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
Abruzzo MA, Erickson RP. A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. J Med Genet. 1077 Feb; 14(1):76-80.
Last updated on 04-27-20
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