Table 2.

Simpson-Golabi-Behmel Syndrome Type 1: Frequency of Select Features

SystemFeature% of Persons w/Feature
Overgrowth Overgrowth (linear growth ≥2 SD above mean for age & sex)85%
Macrocephaly (OFC ≥2 SD above mean for age & sex)34%
Facial features Characteristic facial features87%
Macroglossia88%
Macrostomia85%
Ear deformities80%
Frontal bossing85%
High-arched or cleft palate75%
Hypertelorism85%
Thick lips63%
Cardiac Congenital heart disease55%
Conduction cardiac defects36%
Genitourinary Renal dysplasia, nephromegaly, duplicated renal system72%
Cryptorchidism, hypospadias in males61%
Musculoskeletal Hand & foot anomalies (brachydactyly, cutaneous syndactyly, polydactyly)49%
Neurodevelopmental Intellectual disability60%
Neoplasia Hepatoblastoma & Wilms tumor (most common)11%
Other features Supernumerary nipples64%
Diastasis recti, umbilical hernia35%
Diaphragmatic hernia29%
Organomegaly59%

Klein et al, unpublished data

OFC = occipital frontal circumference; SD = standard deviation

From: Simpson-Golabi-Behmel Syndrome Type 1

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.