Living with Abruzzo-Erickson syndrome
An extremely rare condition with cleft palate, eye differences, hearing loss, short height, and hypospadias.
Understanding Abruzzo-Erickson syndrome
Features also include hypospadias (the urethra opening below the tip of the penis) and fused forearm bones (radioulnar synostosis). The cause is still being studied, but it appears to result at least in part from changes in the TBX22 gene. GARD lists onset as during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Coloboma (a gap in the eye)
- Hypospadias
- Sensorineural hearing loss
- Short stature
- Fused forearm bones (radioulnar synostosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in TBX22 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TBX22 gene appear to cause this condition, at least in part. It is inherited in an X-linked recessive manner.
Also known as: abers; abruzzo erickson syndrome; charge like syndrome x-linked; charge-like syndrome; cleft palate with coloboma of eye and deafness syndrome; cleft palate-coloboma-deafness syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Abruzzo-Erickson syndrome.
Explore research for Abruzzo-Erickson syndrome
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