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.

Diagnostics, Free Full-Text

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases - Rimoldi - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Incomplete Cleft Palate in Cornelia de Lange Syndrome

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

Cockayne Syndrome B disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Figure 1. [Characteristic facial dysmorphisms in CDK13]. - GeneReviews® - NCBI Bookshelf

Kbg Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science hub.

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

De Lange Syndrome

Epilepsy in patients with Cornelia de Lange syndrome: A clinical series - ScienceDirect