Learn About Abruzzo-Erickson Syndrome

What is the definition of Abruzzo-Erickson Syndrome?
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.
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What are the alternative names for Abruzzo-Erickson Syndrome?
  • CHARGE like syndrome X-linked
What are the 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).  
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Who are the top Abruzzo-Erickson Syndrome Local Doctors?
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Dr. Julie A. Lahiri
Vascular Surgery
Distinguished
Highly rated in
98
conditions
Vascular Surgery

The University Of Vermont Medical Center

Burlington, VT 

Julie Lahiri is a Vascular Surgeon in Burlington, Vermont. Dr. Lahiri has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Abruzzo-Erickson Syndrome. She is also highly rated in 98 other conditions, according to our data. Her top areas of expertise are Campomelia Cumming Type, Oculofaciocardiodental Syndrome, Yunis-Varon Syndrome, and Early Infantile Epileptic Encephalopathy. She is board certified in Vascular Surgery and licensed to treat patients in Vermont. Dr. Lahiri is currently accepting new patients in some locations.

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AK
Dr. Anton I. Kidess
Pulmonary Medicine | Intensive Care Medicine
Distinguished
Highly rated in
96
conditions
Pulmonary Medicine
Intensive Care Medicine

AdventHealth Durand

Chippewa Falls, WI 

Anton Kidess is a Pulmonary Medicine specialist and an Intensive Care Medicine doctor in Chippewa Falls, Wisconsin. Dr. Kidess has been practicing medicine for over 35 years and is rated as a Distinguished doctor by MediFind in the treatment of Abruzzo-Erickson Syndrome. He is also highly rated in 96 other conditions, according to our data. His top areas of expertise are Oculodentodigital Dysplasia Dominant, De Barsy Syndrome, Abruzzo-Erickson Syndrome, and Culler Jones Syndrome. He is board certified in Internal Medicine, Critical Care (Intensivists), and Pulmonary Disease and licensed to treat patients in Wisconsin. Dr. Kidess is currently accepting new patients.

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AM
Ari Mosenkis
Dr. Ari Mosenkis
Nephrology
Distinguished
Highly rated in
89
conditions
Nephrology

Internal Medicine

Euclid, OH 

Ari Mosenkis is a Nephrologist in Euclid, Ohio. Dr. Mosenkis has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Abruzzo-Erickson Syndrome. He is also highly rated in 89 other conditions, according to our data. His top areas of expertise are Nephrosclerosis, Blepharocheilodontic Syndrome, Branchiootorenal Syndrome, and Yunis-Varon Syndrome. He is board certified in Nephrology and licensed to treat patients in Tennessee and Ohio. Dr. Mosenkis is currently accepting new patients.

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What are the Latest Advances for Abruzzo-Erickson Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.