Table 4.

Selected Monogenic Disorders in the Differential Diagnosis of Classic and Atypical Schinzel-Giedion Syndrome

GeneDisorderMOIFeatures of Disorder
Overlapping w/SGSDistinguishing from SGS
ARSB
ARSK
GALNS
GLB1
GNS
GUSB
HGSNAT
HYAL1
IDS
IDUA
NAGLU
SGSH 		Mucopolysaccharidosis (OMIM PS607014)AR
(XL 1)		Midface retrusion, coarse facial features, hypertrichosis, poor growthMetabolic anomalies characteristic of MPS
FLNA Melnick-Needles syndrome (See X-Linked Otopalatodigital Spectrum Disorders.)XLSkull base sclerosis, full cheeks, hydronephrosisLuxation of digits, prominent eyes, normal intellectual development
PEX1
PEX2
PEX3
PEX5
PEX6
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX26 		Zellweger spectrum disorder AR 2Midface retrusion, hypertrichosis, large anterior fontanel, seizuresChondrodysplasia punctata, peroxisomal abnormalities

AR = autosomal recessive; MOI = mode of inheritance; MPS = mucopolysaccharidosis; XL = X-linked

1.

Mucopolysaccharidosis is inherited in an autosomal recessive manner except for MPS II; MPS II is caused by pathogenic variants in IDS and inherited in an X-linked manner.

2.

Zellweger spectrum disorder (ZSD) is typically inherited in an autosomal recessive manner. One PEX6 pathogenic variant has been associated with ZSD in the heterozygous state due to allelic expression imbalance dependent on allelic background.

From: Schinzel-Giedion 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.