Brachydactyly Type B: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Brachydactyly Type B?
A primary care doctor is usually the first doctor involved, making a first evaluation and ordering X-rays. Many people are then referred to a medical geneticist or an orthopedic surgeon. Hand surgeons may be involved if surgery is being considered.
What it is
Brachydactyly type B is a rare condition a person is born with. It affects the bones in the fingers and toes. In type B, the ends of the fingers and toes are short or missing, and the thumbs and big toes may look unusual. It is present from birth and does not get worse over time.
Symptoms
The main sign is that the fingers and toes look different from typical hands and feet. The middle and end parts of the fingers may be short, and the nails can be small, split, or missing. Most people with this condition can use their hands well, though some have trouble gripping small objects or walking.
Causes and who gets it
Brachydactyly type B is caused by a change, called a mutation, in a gene named NOG or ROR2. It usually runs in families and is passed down in an autosomal dominant pattern, meaning a child only needs the changed gene from one parent. Some people are the first in their family to have it.
How doctors diagnose it
A doctor can often spot the condition by examining the hands and feet. X-rays show which parts of the fingers and toes are short or missing, and family history is reviewed. Genetic testing can confirm the diagnosis and rule out similar conditions.
Treatment
There is no treatment that changes the bones themselves, and most people do not need any treatment. An occupational therapist can teach ways to grip and hold objects, and a physical therapist can help with walking or balance. Surgery is sometimes considered for severe problems, such as a thumb that does not work well.
When to see a doctor
A baby born with unusually short or missing fingertips and toes should be checked soon after birth. A visit is also a good idea if a child has trouble using their hands or walking. Any new pain, swelling, or loss of movement should be checked as well.
How a direct primary care or concierge doctor fits in
A direct primary care doctor or a concierge doctor can handle most routine care for this condition. Direct primary care means the patient pays a flat monthly fee instead of using insurance; concierge medicine is similar but usually costs more. These doctors can order X-rays, follow growth over time, and refer patients to specialists when needed.
Common questions
Does brachydactyly type B hurt?
Most people feel no pain from the condition itself. Any new pain should be checked by a doctor.
Will my children have it?
If one parent has the condition, each child has a one in two chance of having it. A genetic counselor can explain this in more detail.
Can people with this condition live normal lives?
Yes. Most people with it are otherwise healthy and do daily activities, work, and sports without limits.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
