Overview
What is brachydactyly?
Brachydactyly (brack-ee-dack-til-ee) means “short digits” and is a general term to identify fingers and toes that are shorter than normal. Brachydactyly is a genetic condition, and it happens because of a gene mutation that affects bone growth.
What are the types of brachydactyly?
There are several types of brachydactyly, grouped according to the affected bones and location.
| Types | Bones affected | Location |
|---|---|---|
| A | The short second bone between the knuckle below your nail and the knuckle in the middle of your finger (middle phalanges). | All fingers, only the index finger or only the little finger. |
| B | The short or missing bone at the tip of your finger below your nail. | All fingers or toes except the thumb or big toe. |
| C | The short second bone of your finger (middle phalanges). | The index, middle and little finger. |
| D | The end bone under the nail is short. | The thumb. |
| E | Shortened bones below the knuckles on your fist that form your hands and feet (metacarpals and metatarsals). | The thumb and big toe. |
Who does brachydactyly affect?
Brachydactyly can affect anyone. The condition is genetic and runs in families (inherited) or can happen randomly without the condition being present in someone’s family history.
How common is brachydactyly?
Most types of brachydactyly are rare, with the exception of type A3 and type D. These two exceptions are more common and affect around 2% of the population.
How does brachydactyly affect my body?
Most cases of brachydactyly don’t affect how you’re able to use your fingers or toes. Instead, the condition is merely cosmetic. In rare cases, some people will have trouble walking and using their fingers.
Symptoms and Causes
What are the symptoms of brachydactyly?
The major symptom of brachydactyly is short bones in your hands and feet that cause your fingers and toes to appear shorter than normal in proportion to the rest of your body. Bones that could be short include:
- Phalanges: Phalanges are the finger and toe bones in the hands and feet that are connected internally by joints (below the knuckles). There are two phalanges in the thumb and big toe, and three in each other finger and toe (index, middle, ring and little fingers). The phalange under your nail is the distal phalanx, with the middle phalanx between the knuckle below the nail and the second knuckle on your finger and the proximal phalanx between the second knuckle and the knuckle on your fist.
- Metacarpals: The metacarpals are the bones below the phalanges that make up the palm of your hand. These bones sit between the knuckles on your fist to the base of your palm at your wrist.
- Metatarsals: Similar to metacarpals, metatarsals are the bones below the phalanges that make up the base of your foot before your heel.
Brachydactyly could be a symptom of a larger genetic condition. It can relate to conditions that result in short stature (short height).
What causes brachydactyly?
A genetic mutation causes brachydactyly. Different genes cause different types of brachydactyly.
| Type of Brachydactyly | Mutated Gene |
|---|---|
| Type A1 | IHH |
| Type A2 | BMPR1B or GDF5 |
| Type A3 | HOXD13 |
| Type B | ROR2 |
| Type C | GDF5 |
| Type D | HOXD13 |
| Type E | HOXD13 or PTHLH |
Medications a parent takes during pregnancy, including antiepileptic medicines to treat epilepsy, could cause brachydactyly.
Low blood flow to your hands and feet during infancy could affect how your bones grow.
Brachydactyly could be a symptom of a larger genetic condition like Down syndrome.
Can you inherit brachydactyly?
Yes, you can inherit brachydactyly. The condition is genetic, which means one of your parents can pass the condition onto you (autosomal dominant). In many cases, there is a history of the condition in a person’s family.
To understand your risk of passing a genetic condition onto your children, talk to your healthcare provider about genetic testing.
Diagnosis and Tests
How is brachydactyly diagnosed?
A diagnosis of brachydactyly can occur early during infancy or later in childhood or adolescence when the shortened bones become more noticeable.
Your healthcare provider will diagnose brachydactyly after a complete medical history, a physical exam of your symptoms and ordering an X-ray and potentially a genetic test. An X-ray will show your provider which bones are short. A genetic test helps identify the gene responsible for your symptoms.
Management and Treatment
How is brachydactyly treated?
In most cases, brachydactyly doesn’t affect the function of your fingers and toes on your hands and feet, so no treatment is necessary.
If the shortened bones in your fingers and toes affect movement, reconstructive surgery will improve your ability to use your hands and feet.
Some people diagnosed with brachydactyly choose to have cosmetic surgery if they don’t like the way their shortened fingers or toes look.
Prevention
How can I prevent brachydactyly?
It’s difficult to prevent brachydactyly because it’s a genetic condition you can inherit. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing.
Since some types of brachydactyly could occur as a side effect of a medication the parent takes during pregnancy. Talk with your provider about the medications you currently take if you plan on becoming pregnant. Don’t stop taking a medication unless your provider tells you to do so.
Outlook / Prognosis
What can I expect if I have brachydactyly?
Most cases of brachydactyly don’t affect a person’s wellbeing or way of life since you won’t lose the ability to use your fingers or toes. In more rare cases, the condition can cause you to have limited use of your hands and fingers and you could have trouble walking.
Brachydactyly is most often a cosmetic difference that makes you unique.
Living With
When should I see my healthcare provider?
If you are unable to use your hands or feet after a brachydactyly diagnosis or you experience pain or discomfort in the affected fingers or toes, visit your healthcare provider.
What questions should I ask my doctor?
- Do I need surgery to improve movement in my fingers or toes?
- Am I at risk of passing a genetic condition onto my future children?
- Will the medications I’m currently taking affect the outcome of my pregnancy?
Frequently Asked Questions
Is brachydactyly a disability?
The general diagnosis of brachydactyly is not a disability. There are certain extensions of the condition that would classify as a disability, including brachydactyly-mesomelia-intellectual disability-heart defects syndrome, which has several severe symptoms.
A note from Cleveland Clinic
Brachydactyly often doesn’t cause problems with movement or your ability to use your hands or feet. Your shortened bones will appear as a cosmetic difference between you and your peers, but that’s what makes you unique. Reach out to your healthcare provider if you have difficulty using your fingers or toes affected by your diagnosis.
