Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

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.

Cornelia de Lange Syndrome: What Is It, Causes, Signs, Symptoms, and More

Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant - Jennifer Hague, Philip Twiss, Zoe Mead, Soo-Mi Park, 2019

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

Frontiers Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Annals of Child Neurology

Cornelia de Lange syndrome in diverse populations - Dowsett - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library

Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology