Living with Crouzon syndrome-acanthosis nigricans syndrome
A genetic condition with early closure of skull bones plus thick, dark, velvety skin in body folds.
Understanding Crouzon syndrome-acanthosis nigricans syndrome
It overlaps with Crouzon syndrome. Both involve early skull fusion, wide-set bulging eyes from shallow eye sockets, crossed eyes, a small beaked nose, and a flat middle of the face. Acanthosis nigricans is thick, dark, velvety skin in body folds such as the neck and underarms. Some people have narrowed or blocked nasal passages that cause breathing trouble, and a buildup of fluid in the brain (hydrocephalus). People usually have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closing of skull bones (craniosynostosis)
- Thick, dark, velvety skin (acanthosis nigricans)
- Wide-set, bulging eyes
- Blocked nasal passages (choanal atresia)
- Hearing loss
- Higher pressure inside the skull
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR3 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 World Craniofacial 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
It is caused by changes in the FGFR3 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: can; chronic allograft nephropathy; chronic kidney allograft nephropathy; crouzon syndrome with acanthosis nigricans; crouzon-dermoskeletal syndrome; crouzonodermoskeletal syndrome
Patient organizations
- 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
You are more than your diagnosis
Perspectives from people navigating life with Crouzon syndrome-acanthosis nigricans syndrome.
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