Cornelia de Lange syndrome

Pathology

• ventricular septal defect
• micromelia
• synophrys
• mental & growth deficiency
• pyloric stenosis
• congenital diaphragmatic hernias

Genetics

• X-linked, associated with defects in SMC1L1 gene
• defects in NIPBL gene account for 50% of cases

Clinical manifestations

• facial dysmorphisms
• upper limb abnormalities
• growth delay
• cognitive retardation
• hirsutism
• hearing loss
• autistic & self-injurious tendencies frequent

More general terms

• developmental disorder
• syndrome

More specific terms

• Cornelia de Lange syndrome 1
• Cornelia de Lange syndrome 2
• Cornelia de Lange syndrome 3

Database

• OMIM: https://mirror.omim.org/entry/122470