Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformation...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
The limited documentation surrounding Schinzel-Giedion syndrome is largely due to its extreme rarity, which restricts the number of patients available for systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is needed to better understand the full spectrum of symptoms and their management.
To navigate your care effectively, consider seeking a specialist in genetic disorders or a clinical geneticist with experience in ectodermal dysplasia syndromes. The Schinzel-Giedion Syndrome Foundation (https://sgsfoundation.org) can provide valuable resources and support. Additionally, inquire about opportunities for participation in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial for you and your family.
Currently, there are 23 active clinical trials investigating various aspects of Schinzel-Giedion syndrome. While there are no orphan drug designations, participation in these trials may provide access to new therapies and contribute to advancing knowledge about the condition. For more details, visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=Schinzel-Giedion%20syndrome.
Actionable guidance for navigating care for Schinzel-Giedion syndrome
To navigate your care effectively, consider seeking a specialist in genetic disorders or a clinical geneticist with experience in ectodermal dysplasia syndromes. The Schinzel-Giedion Syndrome Foundation (https://sgsfoundation.org) can provide valuable resources and support. Additionally, inquire about opportunities for participation in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial for you and your family.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Schinzel-Giedion syndrome community
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.