Living with Beare-Stevenson cutis gyrata syndrome
A genetic condition with skin changes and skull bones that fuse early, affecting head shape and brain growth.
Understanding Beare-Stevenson cutis gyrata syndrome
Early fusion keeps the skull from growing normally. It changes the shape of the head and face and can affect brain growth, causing delayed development and intellectual disability. Skin is furrowed and wrinkled (cutis gyrata), especially on the face, near the ears, and on the palms and soles. Signs can begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early fusion of skull bones (craniosynostosis)
- Cloverleaf-shaped skull
- Bulging eyes (proptosis)
- Furrowed, wrinkled skin (cutis gyrata)
- Dark, thick, velvety skin (acanthosis nigricans)
- Blocked back of the nasal passages (choanal atresia)
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 bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FGFR2 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: 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 Craniosynostosis and Positional Plagiocephaly Support Inc 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
Changes in the FGFR2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: beare-stevenson syndrome; bstvs; cutis gyrata syndrome of beare and stevenson; cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; cutis gyrata, acanthosis nigricans, craniosynostosis syndrome
Patient organizations
- Craniosynostosis and Positional Plagiocephaly Support IncBeare-Stevenson cutis gyrata syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Beare-Stevenson cutis gyrata syndrome.
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