Pediatric Definition - Cornelia de Lange
Cornelia de Lange
Cornelia de Lange may present with microcephaly, long eyelashes, thin down turned lips, medial fusion of eyebrows ( synophrys) and hirsutism. Patient with Cornelia De Lange may also suffer from congenital heart disease and limb reduction effects.
Cornelia de Lange is an autosomal dominant disorder due to mutation in the NIPBL gene.
Cornelia de lange carries poor prognosis in term of development.
Cornelia de Lange may present with microcephaly, long eyelashes, thin down turned lips, medial fusion of eyebrows ( synophrys) and hirsutism. Patient with Cornelia De Lange may also suffer from congenital heart disease and limb reduction effects.
Cornelia de Lange is an autosomal dominant disorder due to mutation in the NIPBL gene.
Cornelia de lange carries poor prognosis in term of development.
