Living with Shprintzen-Goldberg syndrome
A genetic condition that affects the skull, face, bones and brain, with a tall, slender build and mild to moderate learning challenges.
Understanding Shprintzen-Goldberg syndrome
Many people have craniosynostosis, in which skull bones join too early. Facial features include a long, narrow head, widely spaced eyes and a small lower jaw. They may have a tall, slender body like that in Marfan syndrome, with long fingers, scoliosis and very flexible joints. Delayed development and mild to moderate intellectual disability are common, as are heart or brain differences and hernias. Signs begin during pregnancy, at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early joining of skull bones (craniosynostosis)
- Bulging, wide-set eyes
- Very flexible joints
- Sunken chest (pectus excavatum)
- Intellectual disability
- Fluid buildup around the brain (hydrocephalus)
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 autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SKI 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
The Marfan Foundation and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Marfan Foundation, World Craniofacial Foundation
- 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 The Marfan Foundation 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
GARD lists changes in the SKI gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: craniosynostosis with arachnodactyly and abdominal hernias; marfanoid craniosynostosis syndrome; marfanoid disorder with craniosynostosis type 1; sgs; shprintzen goldberg craniosynostosis syndrome; shprintzen goldberg syndrome
Patient organizations
- The Marfan FoundationShprintzen-Goldberg syndrome · United States
- FACES: The National Craniofacial AssociationShprintzen-Goldberg syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Shprintzen-Goldberg syndrome.
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