Etiologies

There are many causes of deaf-blindness, each associated with its own unique characteristics and challenges. Over 70 were identified in 2019. Some, such as Alport syndrome, Marfan syndrome, and Hunter syndrome (MPS II), are exceedingly rare, with fewer than five reported cases. Others, such as CHARGE syndrome, Down syndrome, Usher syndrome, and Congenital Cytomegalovirus (CMV), are more prevalent. The number of children with Cornelia de Lange syndrome increased to 103 in 2019, bringing the number of etiologies with at least 100 cases to 13.

Complications from prematurity is the most common cause of deaf-blindness in children represented on the child count, accounting for 10%. The etiology was undetermined in 17%.

The number of children with CHARGE syndrome has increased from 926 in 2015 to 1,033 in 2019. The prevalence of Stickler syndrome and Dandy Walker syndrome have also increased, but are still relatively rare.

The number of children with hereditary syndromes and disorders increased from 4,241 to 5,042 over the past five years and in 2019 accounted for 47.4% of all etiologies. Prenatal congenital complications accounted for 13.8% and postnatal non-congenital complications for 11.7%. Congenital Rubella Syndrome (CRS), which has long been associated with deaf-blindness, is no longer common in the U.S. In 2019, there were 34 children with CRS, which is down from 83 in 2010. Of these, 76% are older than 10 years of age and 50% are 15 or older.