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Cornelia de Lange syndrome in diverse populations

6 Jan 2019

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability,...

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PMID: 30614194
DOI: 10.1002/ajmg.a.61033

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