Living with Autosomal recessive Kenny-Caffey syndrome
A rare inherited condition with low calcium, short height, thick bones, and facial differences.
Understanding Autosomal recessive Kenny-Caffey syndrome
It involves underactive parathyroid glands, which leads to low blood calcium (hypocalcemia). Features include marked slowing of growth, facial differences, thick bone walls in the long bones with narrow marrow spaces, and small hands and feet. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive parathyroid glands
- Slow growth, before and after birth
- Small head size (microcephaly)
- Thickened skull and long bones
- Small hands and feet
- 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 TBCE 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
It is caused by changes in the TBCE gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: kcs1; kenny-caffey syndrome type 1; kenny-caffey syndrome, autosomal recessive
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 recessive Kenny-Caffey syndrome.
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