Short answer · Medically reviewed summary · Last updated: 2026-05-08
Kenny-Caffey Syndrome is a rare genetic disorder characterized by short stature, hypocalcemia, and thickened cortical bones, and it is most commonly identified by this primary name. While sometimes referenced by older terms in historical literature, Kenny-Caffey Syndrome is the standardized term recognized by modern clinical databases and genetic registries. What are the alternative names for Kenny-Caffey Syndrome? In medical literature, Kenny-Caffey Syndrome is sometimes referred to by descriptive terms that highlight its clinical features.
Kenny-Caffey Syndrome synonyms
Other names for Kenny-Caffey Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Kenny-Caffey Syndrome is a rare genetic disorder characterized by short stature, hypocalcemia, and thickened cortical bones, and it is most commonly identified by this primary name. While sometimes referenced by older terms in historical literature, Kenny-Caffey Syndrome is the standardized term recognized by modern clinical databases and genetic registries.
What are the alternative names for Kenny-Caffey Syndrome?
In medical literature, Kenny-Caffey Syndrome is sometimes referred to by descriptive terms that highlight its clinical features. Historically, you may encounter the following synonyms or related designations:
- Kenny-Caffey Syndrome type 1 (associated with FAM111A gene mutations)
- Kenny-Caffey Syndrome type 2 (associated with TBCE gene mutations)
- Tubular stenosis with hypocalcemia
- Kenny-Caffey disease
Why are there multiple names for this condition?
The nomenclature for Kenny-Caffey Syndrome evolved as researchers identified distinct genetic causes. Originally, the condition was described based solely on clinical observations of skeletal abnormalities and low calcium levels. As clinical genetics advanced, the identification of different causative genes led to the classification of types 1 and 2. Using the term Kenny-Caffey Syndrome remains the preferred standard because it honors the original clinicians who first identified the constellation of symptoms, while numerical subtypes provide the necessary specificity for modern genetic diagnosis.
How is Kenny-Caffey Syndrome classified in medical databases?
For official medical records and international coding, Kenny-Caffey Syndrome is indexed under specific identifiers to ensure consistency across global healthcare systems:
- OMIM (Online Mendelian Inheritance in Man): #244460 (Type 1) and #127000 (Type 2).
- Orphanet: ORPHA:478 (Kenny-Caffey syndrome).
- ICD-10/11: Often classified under codes for "Other specified osteochondrodysplasias."
Next steps
- Consult a clinical geneticist to confirm your specific subtype of Kenny-Caffey Syndrome through molecular testing.
- Connect with the 4 members of the DiseaseMaps community who share this diagnosis to exchange experiences.
- Maintain a comprehensive file of your medical records using the primary name Kenny-Caffey Syndrome to facilitate communication between specialists.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
