‘Hi we are a family of five. My name is Harpa and my husband is Páll. Our oldest Sara Dís is 11 yrs, Bryndis Emma is 6yrs old, and youngest Viktor Ingi is 2yrs old.
Our 6yr old has a rare chromosome disorder called Cri Du Chat or 5p-.
She is very hyperactive and fun to be around, her feelings swing a bit from happy and crying, but most of the times she is happy 🙂
She has trouble with speech and balance and social interactions.’
Harpa and Páll
Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.