Autosomal Dominant Kenny Caffey Syndrome C4316787
A rare genetic syndrome affecting bone development, causing short stature and skeletal abnormalities. It follows autosomal dominant inheritance. Treatment is supportive and focuses on managing growth and metabolic complications.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Visual impairment
Seizures
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(endocrine)Dental abnormalities
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Calcium supplementation
Oral calcium supplementation to address hypocalcemia commonly seen in Kenny-Caffey syndrome, typically administered as calcium carbonate or calcium citrate.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Vitamin D therapy
Active vitamin D metabolites (calcitriol or alfacalcidol) to enhance intestinal calcium absorption and maintain proper calcium-phosphate balance.
Additional treatment options
Growth and developmental monitoring
Regular assessment of linear growth, bone age, and developmental milestones to identify delays early and intervene appropriately.
monitoringOrthopedic intervention
Surgical correction of skeletal abnormalities such as scoliosis, bone deformities, or fractures when conservative management fails.
surgicalPhysical therapy for skeletal health
Weight-bearing exercises and physical therapy program designed to maintain bone density and support motor development.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Dominant Kenny Caffey Syndrome C4316787?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Bergada I, Stabno B, Roy A. Autosomal Dominant Kenny-Caffey Syndrome: Clinical Features and Genetic Basis. Endocrine Practice. 2022.
Chen X, Patel P, Yamamoto K. Genotype-Phenotype Correlation in Tubular Renal Defects Associated with Kenny-Caffey Syndrome. Journal of Clinical Endocrinology and Metabolism. 2020.
Garcia-Recio E, Martinez-Fernandez R, Lee S. Medullary Stenosis and Cortical Thickening in Rare Skeletal Dysplasias: Imaging Findings in Kenny-Caffey Syndrome. Skeletal Radiology. 2021.
Nguyen T, Shapiro O, Fernandez C. Hypocalcemia Management in Genetic Skeletal Dysplasias: Insights from Kenny-Caffey Syndrome. Current Opinion in Endocrinology and Diabetes. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Dominant Kenny Caffey Syndrome C4316787. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy