Cornelia de Lange syndrome

Also known as: Brachmann–de Lange syndrome

Multisystem syndrome with growth failure, synophrys and limb anomalies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: HDAC8, NIPBL, RAD21, SMC1A, SMC3

Etiology & mechanism

Cohesin complex defects.

Gene(s) involved (5)

HDAC8NIPBLRAD21SMC1ASMC3

Symptoms & signs (8)

gastroesophageal refluxgrowth failurehearing lossheart defectsintellectual disabilitylimb anomalieslong eyelashessynophrys

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.