Living with Hajdu-Cheney syndrome
A rare condition that mainly affects bones, with bone loss from the tips of the fingers and toes and differences in the skull.
Understanding Hajdu-Cheney syndrome
Bone loss from fingertips and toes (acroosteolysis) is a hallmark. Fingers and toes may look short and rounded and get shorter over time, and fingers are affected more often than toes. This can make fine movements, like picking up small objects, harder. Features vary greatly, even in a family, and many appear in childhood or later. Skull differences are common, including an elongated skull and a bump at the back.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone loss in the fingertips and toes (acroosteolysis)
- Bone pain
- Differences in skull and facial shape
- Dental and jaw differences
- Chiari malformation (brain tissue pushing toward the spine)
- Nail differences
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, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in NOTCH2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Kidney 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
Changes in the NOTCH2 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: acrodentoosteodysplasia; acroosteolysis dominant type; acroosteolysis with osteoporosis and changes in skull and mandible; arthro-dento-osteo dysplasia; arthrodentoosteodysplasia; cheney syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hajdu-Cheney syndrome.
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