Living with Schinzel-Giedion syndrome
A severe genetic condition present from birth that affects the face, nervous system, organs, and bones.
Understanding Schinzel-Giedion syndrome
Babies have distinct facial features, such as a drawn-in middle of the face, a bulging forehead, and a large tongue. Children have severe developmental delay and may have severe feeding problems, seizures, and vision or hearing loss. Heart, kidney, and genital differences can occur, and most children have urine buildup in the kidneys (hydronephrosis).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drawn-in middle of the face
- Large or bulging forehead
- Large tongue (macroglossia)
- Kidney urine buildup (hydronephrosis)
- Heart differences
- Poor weight gain in infancy
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SETBP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SETBP1 gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: schinzel giedion syndrome; schinzel-giedion midface-retraction syndrome; sgs
Patient organizations
- National Foundation for Ectodermal DysplasiasSchinzel-Giedion syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Schinzel-Giedion syndrome.
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