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Cornelia de Lange syndrome 1

Synonyms
Brachmann de Lange syndrome; NIPBL-Related Cornelia de Lange Syndrome; Typus degenerativus amstelodamensis

Summary

Excerpted from the GeneReview: Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Matthew A Deardorff
Sarah E Noon
Ian D Krantz
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Available tests

71 tests are in the database for this condition.

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Clinical tests (71 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDLS, CDLS1, IDN3, IDN3-B, Scc2, NIPBL
    Summary: NIPBL cohesin loading factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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