Living with Autosomal dominant Kenny-Caffey syndrome
A genetic condition that affects the skeleton, head, and eyes and causes frequent low blood calcium.
Understanding Autosomal dominant Kenny-Caffey syndrome
It causes frequent episodes of low blood calcium (hypocalcemia). Other features include thick, dense bones, slow growth, small eyes with farsightedness, and a delay in skull bone and soft-spot closing. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood calcium from low parathyroid hormone
- Short stature and slow growth
- Small eyes and farsightedness
- Thick, dense bones
- Delayed skull bone formation
- Dental cavities
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 hormone specialists.
- 3Consider genetic testing
Changes in FAM111A 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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 says changes in the FAM111A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: dwarfism, cortical thickening of tubular bones and transient hypocalcemia; kcs2; kenny-caffey syndrome type 2; kenny-caffey syndrome, autosomal dominant; kenny-caffey syndrome, type 2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant Kenny-Caffey syndrome.
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