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

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

Figure 2. [Four individuals with Emanuel syndrome]. - GeneReviews® - NCBI Bookshelf

Figure 2. [Hands of a woman age]. - GeneReviews® - NCBI Bookshelf

Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

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

Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect - Genetics in Medicine

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

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

Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? - Conti - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

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: MedlinePlus Genetics

Diagnostics, Free Full-Text