Endocrinology · Endocrinology / Pediatric endocrinology
Cornelia de Lange syndrome
also: Brachmann–de Lange syndrome
Multisystem syndrome with growth failure, synophrys and limb anomalies.
- 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
- Alternative names & eponyms
- Brachmann–de Lange syndrome
Etiology & mechanism
Cohesin complex defects.
Gene(s) involved (5)
Symptoms & signs (8)
In plain terms, someone with Cornelia de Lange syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Kleefstra syndrome
heart defects, intellectual disability, synophrys
2 shared
CHARGE syndrome
hearing loss, heart defects
2 shared
Cockayne syndrome
growth failure, hearing loss
2 shared
Edwards syndrome
heart defects, intellectual disability
2 shared
Mowat–Wilson syndrome
heart defects, intellectual disability
2 shared
Sanjad–Sakati syndrome
growth failure, intellectual disability
2 shared
Smith–Magenis syndrome
hearing loss, heart defects
2 shared
Wolf–Hirschhorn syndrome
heart defects, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
Shares genes with
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