Schinzel-Giedion Syndrome

Last update 08 May 2025

Basic Info

Synonyms

SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, SGS, Schinzel Giedion midface-retraction syndrome

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Introduction

An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.

100 Clinical Results associated with Schinzel-Giedion Syndrome

100 Translational Medicine associated with Schinzel-Giedion Syndrome

0 Patents (Medical) associated with Schinzel-Giedion Syndrome

219

Literatures (Medical) associated with Schinzel-Giedion Syndrome

06 Apr 2025·Human Molecular Genetics

Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes

Article

Author: Zhang, Ying ; Semenak, Amelia ; Zhang, Xin ; Antonyan, Lilit ; Jefri, Malvin ; Hettige, Nuwan C ; Wu, Hanrong ; Macintosh, Julia ; Fleming, Peter ; Ni, Anjie ; Peng, Huashan ; Alsuwaidi, Shaima ; Ernst, Carl

AbstractMany genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells. We find that extremes of SETBP1 protein dose reciprocally influence important signalling molecules such as AKT, suggesting that the SETBP1 protein operates within a narrow dosage range and that extreme doses are detrimental. We identified SETBP1 nuclear bodies as interacting with the nuclear lamina and suggest that SETBP1 may organize higher order chromatin structure via links to the nuclear envelope. SETBP1 protein doses may exert significant influence on global gene expression patterns via these SETBP1 nuclear bodies. This work provides evidence for the importance of SETBP1 protein dose in human brain development, with implications for two neurodevelopmental disorders.

01 Apr 2025·The Laryngoscope

Comparing Intraoperative and In‐Office Steroid Injections for Management of Subglottic Stenosis

Article

Author: Randall, Derrick R. ; Bosch, J. Douglas ; Ramazani, Fatemeh

IntroductionIntralesional corticosteroid injection for management of subglottic stenosis (SGS) is thought to improve patients' surgery free interval (SFI). The objective of this study was to determine the difference in SFI between idiopathic SGS (iSGS) patients treated with endoscopic dilation alone, dilation with a single intraoperative intralesional corticosteroid injection, or dilation with intraoperative steroid injection followed by serial in‐office serial intralesional steroid injection (SILSI) procedures.MethodsRetrospective review of patients with iSGS from 1/1/2012 to 12/1/2023. The SFI was calculated as the time between surgical interventions and independent samples median test was used to compare the difference in SFIs between treatment groups.ResultsThis study identified 305 procedures, involving 104 patients. Fifty‐five procedures involved endoscopic dilation alone (median SFI = 658, IQR: 595 days), 102 involved one injection of steroids intraoperatively (median SFI = 395, IQR: 296 days), 27 involved endoscopic dilation (ED) followed by a single postoperative ILSI (median SFI = 533, IQR: 351), and 15 involved postoperative SILSI (median SFI = 585, IQR: 338 days). Comparing SFI between groups found mean SFI was significantly longer among patients managed with only ED compared with a single intraoperative steroid injection (p = 0.001). Patients who were initially managed with ED and an intraoperative steroid injection has a statistically significant decrease in SFI (p = 0.032) when transitioned to management with ED and intraoperative steroid injection followed by a single ILSI postoperatively.ConclusionPatients who received a single intraoperative steroid injection experienced shorter SFI when compared with those managed with dilation alone. SILSI did not result in a significant increase of SFI within this population.Level of Evidence3 Laryngoscope, 135:1438–1443, 2025

01 Apr 2025·Annals of Otology, Rhinology & Laryngology

Are We Missing Obstructive Sleep Apnea in Patients With Non-traumatic Subglottic Stenosis?

Article

Author: Green, Katherine K. ; Lackey, Taylor G. ; McCabe, Nevan ; Clary, Matthew ; Allen, Avery ; Fink, Daniel S.

Objective:To investigate the association between subglottic stenosis (SGS) and obstructive sleep apnea (OSA).Methods: This is a cross-sectional pilot cohort study conducted at a single tertiary academic center from 2022 to 2023. Subjects with non-traumatic SGS were recruited for enrollment. All subjects completed a peak expiratory flow (PEF) measurement, validated sleep questionnaires: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI), and a 1-night home sleep test (HST). Demographic data were summarized. Prevalence was calculated and descriptively compared to a matched population. Partial correlation analysis evaluated the relationship of PEF% and Meyer-Cotton grading, in addition to PEF% and apnea-hypopnea index (AHI). Sleep quality was compared in subjects with and without OSA via a Mann-Whitney U test. Results: Twenty subjects participated; all were Caucasian females with a mean age of 48.4 (10.4) years and a body mass index (BMI) of 24.1 (3.8). The majority (80%) had idiopathic SGS, and a mean PEF 288 (71) L/min. OSA was present in 40% of subjects, of which 15% had moderate OSA. PEF% did not correlate to AHI ( P > .05). Poor sleep quality (PSQI ≥ 5) was present in 70% of subjects and 20% had excessive daytime sleepiness (ESS > 9). PSQI and ESS did not differ between subjects with and without OSA ( P > .05). Conclusion:OSA prevalence is elevated in a cohort of subjects with SGS. Further study of airway dilation’s impact on OSA is necessary. Screening and surveillance for OSA in patients with subglottic stenosis may need to be considered based on this study’s findings.Level of Evidence: Level 3.

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Schinzel-Giedion Syndrome

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