Table 2.

Select Features of Okur-Chung Neurodevelopmental Syndrome

FeatureProportion of Persons w/FeatureComment
Developmental delay /
intellectual disability
35/35 1Generally mild-to-moderate, w/language development most affected domain
Dysmorphic facial features29/36Round face & short, broad nasal tip
Behavioral issues27/36
Hypotonia22/36Generally mild
Brain MRI abnormalities11/20 2Nonspecific
Musculoskeletal findings15/36Kyphoscoliosis, loose joints, hernia
Difficulty feeding14/36From infancy to childhood
Postnatal short stature14/36Generally 2-3 SD below mean
Difficulty gaining weight13/36
Sleep issues13/36Disrupted circadian rhythm
Microcephaly / smaller head (absolute or relative)12/36
Seizures11/36No specific type
Ataxia / gait difficulties /
poor coordination
9/36

SD = standard deviation(s)

1.

One individual was too young for assessment [Colavito et al 2018].

2 The number of individuals reported to have had brain MRI performed

From: Okur-Chung Neurodevelopmental Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.