Cornelia de Lange Syndrome

CLINICAL CHARACTERISTICS: Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth failure (often prenatal onset; height and weight <5th centile throughout life), hypertrichosis, and limb abnormalities (e.g., complete absence of elbow and forearms, oligodactyly [missing digits], micromelia [small hands],...

Audiologists seeing patients with CdLS should be aware of associated hearing loss (conductive, sensorineural, or mixed) and ensure regular audiological monitoring is part of the multidisciplinary care plan; no new clinical guidance beyond standard syndromic hearing loss management is introduced here.

CdLS is one of many genetic syndromes where hearing loss is a frequently overlooked component, and awareness of its audiological profile supports earlier identification and intervention in this population.

1. 01CdLS is a genetic syndrome with a broad spectrum of features, including hearing loss as a recognized component.
2. 02Hearing loss in CdLS can be conductive (sound not passing through the ear properly), sensorineural (inner ear or nerve damage), or mixed.
3. 03GeneReviews entries are authoritative, regularly updated references aimed at clinicians managing genetic conditions.
4. 04The 2026 update reflects the most current understanding of CdLS genetics and clinical management.
5. 05Audiology relevance is tangential — the article is primarily a genetics resource, not an audiology-specific publication.

PMID

20301283

Journal

GeneReviews (NCBI Bookshelf)

Publication type

review

Evidence level

5

Population

Individuals with Cornelia de Lange Syndrome across the clinical spectrum, including pediatric and adult patients

Intervention

Clinical characterization and genetic review of Cornelia de Lange Syndrome