Conditions / Syndrome
Cornelia de Lange syndrome 6
info · Syndrome
A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.
Signs and symptoms
- Inguinal hernia
- Gastroesophageal reflux
- Cleft lip
- Short 1st metacarpal
- Posterior rib fusion
- Hypertelorism
- Atrioventricular canal defect
- Pulmonary artery atresia
- Macrodontia of permanent maxillary central incisor
- Down-sloping shoulders