Table 2.

Select Features of Allan-Herndon-Dudley Syndrome in Affected Males

Feature 1% of Persons w/Feature
Prenatal/
neonatal
findings 		Weak fetal movements1.4%-16.6%
Fetal arrhythmia0%-1.4%
Neonatal hypotonia4.4%-9.4%
Premature birth0%-0.7%
Neonatal hypotrophy0%-4.2%
Congenital microcephaly0%-0.7%
Congenital macrocephaly0%-0.7%
Hydramnios0%-1.4%
Neonatal jaundice0%-20.8%
Growth Weight gain deficiency33.3%
Low weight37%-66.6%
Short stature12.6%-29.1%
Microcephaly10%-33.3%
DD/ID ID100% 2
Severe-to-profound ID37.5%-83.3% 2
Mild-to-moderate ID16.6%-62.5% 2
Oral language19.9%-69%
Walking19.9%-62%
Neuromuscular Axial hypotonia74%-100%
Amyotrophy34.5%-88%
Spasticity/hyperreflexia70.8%-94%
Dystonia0%-75%
Choreoathetosis0%-50%
Paroxysms or kinesigenic dyskinesias0%-9%
Ataxia0%-60%
Seizures14.8%-29.1%
Nystagmus0%-16.6%
Skeletal Pectus excavatum9.1%-58%
Kyphoscoliosis21.1%-53.0%
Flat feet with valgus4.3%-77%
Other Narrow/elongated myopathic face31%-75%
Cryptorchidism2.8%-33.3%
Peripheral dysthyroidism27.9%-66.6%
Brain MRI Severely delayed myelination33.1%-79.1%
Myelination improvement8.4%-62.4%
Brain atrophy17%-41.6%

DD = developmental delay; ID = intellectual disability

1.

Features and percentages of persons with feature were evaluated from the cohorts of Schwartz et al [2005], Remerand et al [2019], and the entire literature reporting persons with AHDS. Variation in percentages can be attributed to either the non-evaluation or lack of systematic evaluation of features in different reports.

2.

Expressed as % of all males with AHDS. All affected persons had ID ranging from mild to profound.

From: Allan-Herndon-Dudley 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.