Cornelia de Lange syndrome
Findings
No curated finding names Cornelia de Lange syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016033), read 2026-09-29. CC BY 4.0.
Features
100 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally low-pitched voiceHPOHP:0010300
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Curly eyelashesHPOHP:0007665
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturation
Show the remaining 88
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HDAC8HGNC:13315
- Definitive · ClinGen · X-linked · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- NIPBLHGNC:28862
- Definitive · ClinGen · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- RAD21HGNC:9811
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- SMC3HGNC:2468
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Cornelia de Lange syndrome
- Also called
- Brachmann-de Lange syndrome