Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome is a condition that includes several differences present from birth. It is characterized by a range of congenital anomalies including a cleft palate, eye issues (ocular coloboma), and other physical differences. In people with this condition, multiple body systems can be affected, which makes each case unique. This syndrome is known for causing differences in facial, auditory, and skeletal development. The features mentioned may impact feeding, hearing, and growth, and they highlight the need for comprehensive care. The information about this condition comes from clinical observations and medical literature, underscoring its complexity.

People with Abruzzo-Erickson syndrome commonly show a cleft palate along with an eye abnormality known as ocular coloboma. They may also experience hypospadias, a condition affecting the male urinary tract, as well as a mixed type of hearing loss that has both conductive and sensorineural elements. Other symptoms include shorter stature and a condition called radio-ulnar synostosis, where the bones in the arm are fused.

The syndrome is linked to changes in the TBX22 gene, which plays a role in development. The genetic aspect, along with the pattern of features noted in people with the syndrome, indicates that it can be inherited. The manner of inheritance is suggested to be related to the X-linked form given the synonyms provided.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.