Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies

Definition:

Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and skeletal anomalies. Several underlying genetic causes of these diseases have been identified.

References:

[1]. Aida M Bertoli-Avella, et al. Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med. 2021 Aug;23(8):1551-1568. [Content Brief]

[2]. Elliot S Stolerman, et al. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Am J Med Genet A. 2019 Jul;179(7):1276-1286. [Content Brief]

[3]. Joanne Trinh, et al. A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. J Hum Genet. 2017 Nov;62(11):1005-1006. [Content Brief]

[4]. Julien Buratti, et al. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. J Med Genet. 2021 Mar;58(3):205-212. [Content Brief]

[5]. Maria J Nabais Sá, et al. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 Mar 5;106(3):405-411. [Content Brief]

[6]. Paweł Stankiewicz, et al. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. [Content Brief]

[7]. Raphael Carapito, et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):319-330. [Content Brief]

[8]. Richard J Holt, et al. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. [Content Brief]

[9]. Vandana Shashi, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. [Content Brief]

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