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Brachydactyly Type B C1300267

Published: July 22, 2026Updated: August 20, 2026

An inherited skeletal disorder causing severe shortening of fingers and toes. May affect distal bones and nails; severity varies among affected individuals.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q79.9
ICD-11
LA00.0
Body system
musculoskeletal
Severity
mild
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Joint pain or stiffness

(musculoskeletal)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Short distal phalanges

(musculoskeletal)

Nail dysplasia

(musculoskeletal)

Absent digits

(musculoskeletal)

Foot abnormalities

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
2

Nail and Skin Condition Monitoring

Close observation of nail bed development and skin integrity on affected distal digits. Important for preventing secondary complications from absent or severely shortened fingertips.

monitoring
3

Distal Digit Reconstruction

Surgical reconstruction of severely shortened or absent distal phalanges using bone grafts, soft tissue procedures, or combined approaches. Aims to restore length and improve function.

surgical

Additional treatment options

Fine Motor Rehabilitation

Intensive occupational therapy focused on fine motor skill development, pinch mechanics, and tactile sensitivity training. Essential for maximizing function with shortened fingertips.

physical_therapy

Hand Difference Counseling

Specialized psychological support addressing the broader impact of visible hand differences, including social situations, dating concerns, and workplace interactions.

psychological

Protective Padding Fitting

Custom-fitted protective padding for shortened or sensitive digits to prevent injury and improve comfort during daily activities. Particularly important when nail structures are absent.

procedure

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Brachydactyly Type B C1300267?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Kantaputra PN, Matsumoto Y, S杣ipp T. Clinical practice guidelines for diagnosis and management of brachydactyly type B. J Bone Joint Surg Am. 2022.

guideline2022
2

Temtamy SA, Aglan MS, Ashour AM. Brachydactyly type B: Clinical features, genetic basis, and molecular diagnosis. Orphanet J Rare Dis. 2020.

review2020
3

Oldridge M, Zackai EH, Mcdonald-Mcginn DM. Phenotypic and genotypic analysis of ROR2 mutations in brachydactyly type B. Clin Genet. 2019.

clinical_trial2019
4

Schwabe GC, Tinschert S, Beetz C. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2021.

other2021

Medication Comparisons

Compare medications used to treat Brachydactyly Type B C1300267. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy