Is Ruby from Angie and Ruby blind?

Is Ruby from Angie and Ruby blind?

That night when I visited her, a nurse told me that in addition to having microcephaly, Ruby was also blind.

Is Stromme syndrome rare?

Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly.

How old is Ruby from Ruby and Angie?

Intro. Ruby is a 17-year-old with a rare genetic condition called Stromme Syndrome.

How is Stromme syndrome inherited?

Stromme syndrome is considered an autosomal recessive congenital disorder. This means that a person inherits two abnormal genes during conception — one from each parent. In this case, the syndrome is caused by genetic mutations to the person’s CENPF gene .

What is Stromme syndrome?

Definition. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac.

Is Stromme syndrome fatal?

In some cases , Stromme syndrome can be fatal in early life. However, some infants have a good general condition. It can be helpful if a healthcare professional diagnoses intestinal atresia before birth and carries out the treatment quickly once the infant is born. This can reduce the risk of complications.