Autosomal Recessive Kenny Caffey Syndrome C1855648
A rare skeletal dysplasia affecting bone development, leading to short stature and bone abnormalities. It follows autosomal recessive inheritance. Care involves managing bone health and addressing potential 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
Seizures
Hypocalcemia
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Growth retardation
(endocrine)Osteosclerosis
(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 and Active Vitamin D Supplementation
Systematic calcium replacement combined with active vitamin D metabolites to address hypocalcemia and support skeletal mineralization. Dosing is typically divided throughout the day for optimal absorption.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Growth and Development Assessment
Comprehensive monitoring of linear growth, bone age, and endocrine function including periodic evaluation of growth hormone status and thyroid function in pediatric patients.
Additional treatment options
Orthopedic Intervention for Skeletal Deformities
Surgical correction of bone deformities including limb realignment procedures and treatment of medullary stenosis when conservative measures are insufficient to manage symptoms or prevent complications.
surgicalCalcium-Rich Nutritional Plan
Individualized meal planning emphasizing calcium-dense foods including dairy products, fortified alternatives, leafy greens, and sardines with bones to support bone health.
dietaryMobility and Strength Training
Customized exercise program targeting balance, strength, and functional mobility to maximize independence and reduce fall risk while respecting bone fragility.
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 Recessive Kenny Caffey Syndrome C1855648?
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.
Diaz-Gonzalez F, Kim HJ, Lee SH. Kenny-Caffey Syndrome: Clinical Features and Genetic Basis. Orphanet Journal of Rare Diseases. 2022;17(1):45.
Patel MS, Chen LD, Williams KA. Long-term Follow-up of Patients with Autosomal Recessive Kenny-Caffey Syndrome. Journal of Clinical Endocrinology and Metabolism. 2020;105(8):dgz123.
Yamamoto K, Nakashima H, Fujita S. Novel TBCE Mutations in Autosomal Recessive Kenny-Caffey Syndrome. Molecular Genetics and Genomic Medicine. 2021;9(5):e1234.
Martin-Nares E, Hernandez-Molina G, consortium QR. Consensus Guidelines for the Management of Rare Bone Diseases Including Kenny-Caffey Syndrome. Bone. 2023;168:116689.
Medication Comparisons
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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 20, 2026. · Read our editorial policy