Cornelia de Lange syndrome

MONDO:0016033

A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

Also known as: Brachmann-de Lange syndrome, Cornelia de Lange syndrome, CDLS

6 clinical trials for this condition and its sub-types, 4 tagged with Cornelia de Lange syndrome itself.

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Where it sits in the disease tree

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↑ Hereditary disease (18187) ↑ Syndromic disease (7133) ↑ Congenital limb malformation (61) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Sub-types of Cornelia de Lange syndrome

Including sub-types (6) Tagged with Cornelia de Lange syndrome (4)

Trials to join now! 2 Not yet recruiting 1 Completed 1

Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome

Knowledge-focused Completed

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Sep 11, 2026 00:00 UTC

Cornelia de Lange syndrome

Where it sits in the disease tree

Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome