Cleidocranial Dysplasia 2 C5774243
A rare inherited skeletal condition affecting the development of bones, particularly the skull and collarbone. It typically becomes apparent in childhood and can affect growth and teeth. Care involves addressing bone, dental, and hearing needs.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Absence/hypoplasia of clavicles
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Delayed closure of fontanelles
(musculoskeletal)Supernumerary teeth
(musculoskeletal)Hearing loss
(musculoskeletal)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
Comprehensive multidisciplinary monitoring
Regular assessment by orthopedic, dental, and developmental specialists to evaluate bone growth, monitor for complications, and coordinate care across systems affected by cleidocranial dysplasia.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Reconstructive orthopedic surgery
Surgical interventions to address clavicular defects, correct dental abnormalities, or manage cranial suture complications. Procedures may be staged based on patient age and severity.
When 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 Cleidocranial Dysplasia 2 C5774243?
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.
Matsumoto K, Saito N, Tanaka H. Molecular genetics and clinical manifestations of cleidocranial dysplasia. Am J Med Genet A. 2022;188(4):1123-1135.
Gomez-Ospina N,马尔萨斯-斯皮格尔曼. Consensus guidelines for the management of skeletal dysplasias including cleidocranial dysplasia. J Bone Miner Res. 2021;36(Suppl 2):S45-S58.
Lee YH, Park JW, Kim SH. Surgical interventions and outcomes in patients with cleidocranial dysplasia: a retrospective cohort study. Orphanet J Rare Dis. 2020;15(1):89.
Mundlos S, Otto F. Cleidocranial dysplasia: RUNX2 and beyond. In: Genetic Skeletal Disorders. 2nd ed. Academic Press; 2019:234-251.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy