What are the other Names for this Condition? (Also known as/Synonyms)

• Cleft Palate Colobomata Radial Synostosis Deafness Syndrome
• Oculo-Palato-Osseous Syndrome
• X-Linked CHARGE-like Syndrome

What is Abruzzo-Erickson Syndrome? (Definition/Background Information)

• Abruzzo-Erickson Syndrome is an extremely rare genetic disorder characterized by a combination of congenital anomalies, including cleft palate, ocular coloboma, hypospadias, hearing loss, short stature, and radio-ulnar synostosis.
• It is inherited in an X-linked recessive manner, primarily affecting males, with female carriers having a 50% chance of passing the mutation to their children. Carrier females usually show no symptoms but can pass the mutation to their offspring, with each son having a 50% chance of being affected.
• The primary risk for Abruzzo-Erickson Syndrome is being born to a mother who carries the mutation on one of her X chromosomes. Family history of the disorder may increase the likelihood of it being passed on.
• The exact cause of Abruzzo-Erickson Syndrome is not fully understood but appears to be linked to mutations in the TBX22 gene, which plays a role in facial and limb development during embryogenesis.
• Symptoms of the syndrome include cleft palate, eye abnormalities (coloboma), hypospadias, conductive-sensorineural hearing loss, short stature, and abnormal fusion of the forearm bones (radio-ulnar synostosis). Other features may include protruding ears, dental abnormalities, and congenital heart malformations.
• The diagnosis is based on clinical features observed at birth or in early childhood, such as cleft palate and coloboma. Genetic testing can confirm the presence of TBX22 mutations. Differential diagnosis may include CHARGE syndrome, though intellectual disability and choanal atresia are typically absent in Abruzzo-Erickson Syndrome.
• Complications may arise from cleft palate, which can affect feeding and speech, and hearing loss, which may require intervention. There can also be skeletal and dental complications, depending on the severity of the bone and craniofacial abnormalities.
• Treatment typically involves corrective surgery for cleft palate and other physical anomalies, hearing aids for hearing loss, and a multidisciplinary approach to manage other symptoms. Regular monitoring of development and health is recommended.
• There is no known prevention for Abruzzo-Erickson Syndrome due to its genetic nature. Genetic counseling may help at-risk families understand the likelihood of passing the disorder on to their children.
• Life expectancy is generally normal for individuals with Abruzzo-Erickson Syndrome, though the quality of life can depend on the severity of the physical anomalies and access to corrective surgeries and therapies. Long-term prognosis is favorable with proper management.

Who gets Abruzzo-Erickson Syndrome? (Age and Sex Distribution)

• Abruzzo-Erickson Syndrome primarily affects males due to its X-linked recessive inheritance pattern. Females can be carriers of the genetic mutation, though they are usually not affected by the syndrome.
• The condition is congenital, meaning it is present from birth, and symptoms are often identified during infancy or early childhood.
• Although the syndrome is rare, males in families with a history of the disorder are at the highest risk of being affected.
• Worldwide, individuals of all racial and ethnic groups may be affected. The syndrome occurs independently of ethnicity or geographical location.

What are the Risk Factors for Abruzzo-Erickson Syndrome? (Predisposing Factors)

The primary risk factor for Abruzzo-Erickson Syndrome is having a family history of the condition due to its X-linked recessive inheritance pattern.

• Women who carry the genetic mutation have a 50% chance of passing the syndrome to their sons.
• Additionally, daughters of carrier mothers have a 50% chance of being carriers themselves.
• Beyond genetic factors, no specific environmental or lifestyle-related risk factors have been identified.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Abruzzo-Erickson Syndrome? (Etiology)

• The exact cause of Abruzzo-Erickson Syndrome is still being studied, but it is believed to be linked to mutations in the TBX22 gene located on the X chromosome.
• This gene is known to play a role in craniofacial development, which is why patients often present with cleft palate and other facial anomalies.
• The syndrome is inherited in an X-linked recessive manner, meaning the condition primarily affects males, while females may be carriers.

While genetic factors are recognized, other potential contributing factors remain unknown. This genetic mutation disrupts normal development during early pregnancy, leading to the range of congenital anomalies seen in individuals with the syndrome.

The gene associated with Abruzzo-Erickson Syndrome is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Abruzzo-Erickson Syndrome?

• Abruzzo-Erickson Syndrome is characterized by a variety of congenital anomalies that affect multiple body systems.
• Common signs include cleft palate, ocular coloboma (a defect in the eye), hypospadias (a urethral abnormality in males), and mixed conductive-sensorineural hearing loss.
• Individuals may also present with short stature, radio-ulnar synostosis (fusion of the radius and ulna bones), and protruding ears.
• Additional features may include palatal rugosity (ridges on the roof of the mouth), dental abnormalities, and occasional congenital heart defects.

The severity and combination of symptoms can vary between individuals.

How is Abruzzo-Erickson Syndrome Diagnosed?

• Abruzzo-Erickson Syndrome is diagnosed primarily through clinical observation of its characteristic features, including cleft palate, ocular coloboma, and hypospadias.
• Genetic testing can help confirm the diagnosis by identifying mutations in the TBX22 gene, which has been associated with the syndrome.
• Diagnosis may involve molecular and genetic analysis to rule out similar conditions, such as CHARGE syndrome.
• Imaging studies, hearing tests, and heart evaluations may also be performed to assess the full extent of congenital anomalies.

Early diagnosis is crucial to plan for appropriate treatment and management of the condition's manifestations.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Abruzzo-Erickson Syndrome?

• The possible complications of Abruzzo-Erickson Syndrome include feeding difficulties due to cleft palate, which can lead to malnutrition and growth delays.
• Hearing loss from mixed conductive-sensorineural hearing impairment may result in delayed speech and language development.
• Congenital heart defects, if present, could lead to cardiac complications requiring medical intervention.
• Skeletal abnormalities, such as radio-ulnar synostosis, may cause limited arm mobility and functional impairment.
• Additionally, ocular coloboma could result in visual impairment or blindness.

Surgical interventions, while necessary, carry their own risks, including infection and complications from anesthesia.

How is Abruzzo-Erickson Syndrome Treated?

Abruzzo-Erickson Syndrome is treated through multidisciplinary management aimed at addressing the specific congenital anomalies present in each individual.

• Surgical interventions may be required to correct cleft palate and ocular coloboma, as well as to manage hypospadias and skeletal abnormalities like radio-ulnar synostosis.
• Hearing loss is typically managed with hearing aids or other supportive therapies.
• Craniofacial surgery may be necessary for more extensive facial deformities.
• Additionally, regular monitoring and supportive care, including speech therapy for communication development and cardiac monitoring if heart defects are present, are important aspects of the treatment plan.

There is no cure, but early intervention can improve outcomes.

How can Abruzzo-Erickson Syndrome be Prevented?

Abruzzo-Erickson Syndrome cannot be prevented due to its genetic basis.

• However, genetic counseling can be beneficial for families with a history of the condition.
• Carrier screening for the TBX22 gene mutation can help identify at-risk individuals.
• Prenatal genetic testing might be offered for those with a family history to assess the risk in unborn children.
• Early diagnosis and preemptive management of symptoms can improve quality of life and outcomes, but no measures can completely prevent the syndrome.

What is the Prognosis of Abruzzo-Erickson Syndrome? (Outcomes/Resolutions)

• The prognosis for Abruzzo-Erickson Syndrome is generally positive, with life expectancy typically approaching normal based on current observations.
• The condition's severity varies, but many individuals experience manageable symptoms with appropriate medical and surgical interventions.
• Long-term outcomes can be good, especially with early and comprehensive treatment.

While the syndrome presents several challenges, including potential physical and developmental issues, early diagnosis and multidisciplinary care can significantly improve quality of life and overall health.

Additional and Relevant Useful Information for Abruzzo-Erickson Syndrome:

• The name of the disorder is derived from the research scientists Abruzzo and Erickson who first described it in 1977

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/