Sophia was diagnosed with
Cornelia de Lange syndrome, which affects one in every 10,000 babies, when she was born.
Cornelia de Lange syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
Born in August 2011 at Newcastle's Royal Victoria Irmary, Jack was initially diagnosed with rare
Cornelia de Lange syndrome, developmental disorder that aects many parts of the body, including the features.
Cornelia de Lange Syndrome is rare - between one in 40,000 and 100,000 babies are born with the condition.
Behavioural phenotype of
Cornelia de Lange syndrome.
Cornelia de Lange syndrome, Brachmann de Lange syndrome
This could include parents of children with autism, Prader-Willi,
Cornelia de Lange and Downs syndromes.
Study leader Stephen Gallagher said the team was looking for parents who provide regular care to children with autism, Prader-Willi,
Cornelia de Lange and Downs syndromes.
Description of a case of
Cornelia de Lange syndrome.
NIPBL mutations and genetic heterogeneity in
Cornelia de Lange syndrome.
Devon Barnes, from Billingham, suffers from
Cornelia de Lange Syndrome, which slows down children's development and leaves many with abnormal limbs.
Jada suffered from a number of defects, including, inter alia,
Cornelia de Lange syndrome, spina bifida, and hydrocephalus and paralysis from the waist down.