Cornelia de Lange Syndrome: Symptoms, Causes & Support

Cornelia de Lange Syndrome (CdLS) is a rare cohesinopathy (cohesin complex dysfunction) from mutations in NIPBL (60%), SMC1A, SMC3, RAD21, BRD4. Incidence ~1:10,000–30,000.

Cardinal Features

• Growth: Prenatal/postnatal restriction; microcephaly.
• Neurodevelopmental: ID (mild–profound); speech delay; autism features.
• Facial: Synophrys (joined brows), long philtrum, thin downturned lips, anteverted nares.
• Limbs: Upper limb reduction (oligodactyly, phocomelia), clinodactyly, small hands/feet.
• Medical: GERD (90%), cardiac defects, hearing loss, ptosis, seizures, GI malrotation.

Management

• Early intervention (PT, OT, ST, feeding therapy).
• GERD: PPI, thickened feeds, fundoplication if severe.
• Subspecialty surveillance: cardiology, ophthalmology, audiology, orthopedics, GI.
• Special education: AAC, individualized curriculum.
• CdLS Foundation — family support, research, clinical guidelines.

Phenotype varies widely. Lifespan near-normal with modern care. Multidisciplinary team maximizes potential.