Living with Kenny-Caffey syndrome
A rare bone condition with short stature, thick long bones, low calcium from a low-working parathyroid gland, and facial and eye differences.
Understanding Kenny-Caffey syndrome
Features include dense, narrow long bones, a late-closing soft spot on the skull, low calcium from underactive parathyroid glands, and facial differences such as a prominent forehead, small eyes, and a small jaw. Eye and dental differences are also listed. The recessive form is more severe, with slower growth, small hands and feet, a small head, intellectual disability, and repeated bacterial infections. It is noticed in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Short stature with slow growth
- Low calcium (hypocalcemia)
- Underactive parathyroid glands
- Late closing of the soft spot on the skull
- Small eyes and other eye differences
- Dental problems
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America 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
GARD says changes in genes (also called variants) cause this condition. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: kenny syndrome
Patient organizations
- Little People of AmericaKenny-Caffey syndrome · United States
- Children's Craniofacial AssociationKenny-Caffey syndrome · United States
- FACES: The National Craniofacial AssociationKenny-Caffey syndrome · United States
- Human Growth FoundationKenny-Caffey syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Kenny-Caffey syndrome.
Explore research for Kenny-Caffey syndrome
Explore actively recruiting Kenny-Caffey syndrome studies with HealthSpark.
Find actively recruiting studies for Kenny-Caffey syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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