Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities

Alternative Names

  • NEDCFSA

Associated Genes

Lysine Demethylase 6B
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

618505

Mode of Inheritance

Autosomal dominant

Gene Map Locus

17p13.1

Description

Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) is a developmental disorder characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities, such as autistic features, hyperactivity, or attention deficits. Most individuals have coarse facial features, including prominent forehead, large ears, and wide mouth. Other features may include wide hands, thickened fingers, and cutaneous toe syndactyly, as well as joint hyperlaxity. Mutations occur de novo, such that the disorder occurs sporadically in patients with no family history of a similar disorder. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618505.1United Arab EmiratesMaleNoNo Autism; Attention deficit hyperactivity ... NM_001080424.1:c.974delHeterozygousSaleh et al. 2021 de novo mutation
618505.2United Arab EmiratesMaleNoYes Global development delay; Hyperactivity... NM_001080424.1:c.4271_4273delHeterozygousSaleh et al. 2021 de novo mutation
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