Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
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Last updated 16 junho 2024
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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.
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1q21 1 Deletion Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
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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
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Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
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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
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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](https://www.ncbi.nlm.nih.gov/books/NBK1104/bin/cdls-Image003.jpg)
Figure 3. [Range of limb anomalies in CdLS]. - GeneReviews® - NCBI Bookshelf
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Burn-Mckeown Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Diagnostics, Free Full-Text
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Cornelia de Lange Syndrome: What Is It, Causes, Signs, Symptoms, and More
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