Cleidocranial Dysplasia 1 Forme Fruste With Brachydactyly C5774312
A genetic skeletal disorder affecting bone development, particularly the collarbone and skull, along with short fingers. It is present from birth and may cause dental and growth concerns. Treatment focuses on managing bone and dental complications.
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.
Hypoplastic clavicles
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Dental abnormality
(musculoskeletal)Delayed fontanelle closure
(musculoskeletal)Short stature
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular orthopedic monitoring
Periodic clinical evaluation and imaging studies to track skeletal development, monitor for fractures, and assess the progression of bone abnormalities in the clavicle, skull, and digits.
Orthopedic surgical intervention
Surgical correction of skeletal abnormalities may be necessary for severe clavicular hypoplasia, cranial anomalies, or dental issues. Procedures are tailored to individual patient needs.
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 1 Forme Fruste With Brachydactyly C5774312?
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.
Hansebout CR, Bergmann J, Weber M. Executive summary: Standards of care for cleidocranial dysplasia spectrum disorders. Skeletal Radiol. 2022.
Patel SG, Krishnamurthy S, O'Brien KJ.RUNX2-associated skeletal dysplasias: Clinical spectrum and molecular pathophysiology. J Bone Miner Res. 2021.
Tanaka T, Fujimoto H, Schmidt RL, Nakamura Y. Dental management outcomes in cleidocranial dysplasia: A prospective cohort study. Orphanet J Rare Dis. 2020.
Mendoza-Londono R, Lee ER, Wallis R. Brachydactyly in skeletal dysplasias: Phenotypic spectrum and genetic contributors. Hum Mutat. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy