If you have a visibly shortened, thickened thumb, you may have brachydactyly type D. STYLEBOOK has what this anomaly – which also affects Hollywood star Megan Fox – is, where it comes from and how to treat it asked a specialist.
What is brachydactyly?
“Brachydactyly, also known as short-fingeredness, is a congenital malformation of the skeleton that is associated with shortening of the fingers and toes due to unusually short bones,” says Dr. medical Christoph Pooth, specialist in general medicine. “It is an inherited disease that is usually harmless and painless and does not cause any motor impairments for those affected. In rare cases, it can also be a symptom of other genetic disorders. Unless there is a concomitant disease that causes symptoms, or the abnormality itself is debilitating, no medical treatment of brachydactyly is required.”
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How does brachydactyly manifest itself?
The signs of brachydactyly are usually congenital, although they may become more evident as the child grows and develops. The main symptom of brachydactyly is fingers, toes, or both that are shorter than normal. “If the shortened limbs are very pronounced, they can cause difficulty in grasping or walking. However, these symptoms are very rare in the absence of any other concomitant disease,” said Dr. Pooth. There are different types of brachydactyly, depending on which bones are shortened.
What types are there?
Type A: shortened middle finger bone
Type A brachydactyly is a shortening of all the middle finger bones, the second of each finger.
Type B: shortened last finger bone
In type B, the last bone of each finger or toe is shortened or missing entirely, including the nails. However, the thumb bones are always intact, but often flattened and/or split.
Type C: shortened index, middle and ring finger
“Type C is rare and affects the index, middle, and little fingers. The middle phalanges are shortened as in type A, but the ring finger is often unaffected and is therefore the longest finger on the hand,” says the expert.
Type D: shortened, thickened thumb (hammer thumb)
“Brachydactyly type D (brachymegalodactylism) is the most common form of brachydactyly. It is associated with short thumbs and a wide nail bed, while the other fingers are normal. Colloquially also called hammer or club thumb. In some cases, the big toe may also be shortened and thickened,” says Dr. Pooth.
Type E: shortened metacarpal and metatarsal bones
Type E is also very rare. It is characterized by shortened metacarpal and metatarsal bones, making the hands and feet small overall.
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Causes of shortened thumbs
inheritance
“Brachydactyly is an inherited condition, so genetics are believed to be the primary cause. In those affected, the disease is highly likely to also affect other family members because it is inherited in an autosomal dominant manner. This means only one parent needs to carry the gene to inherit the disease. Two different mutations in a given gene are believed to contribute to brachydactyly. “, explains Dr. Pooth up. Incidentally, women have a higher risk of developing brachydactyly than men.
medication
It may be possible that brachydactyly is caused by medications the mother is taking during pregnancy. If these lead to circulatory disorders in the hands and feet of developing babies, this can promote the disease.
Genetic Syndrome
In very rare cases, it can be a symptom of a genetic syndrome, such as Down’s syndrome or Cushing’s syndrome. In this case, other symptoms appear in addition to the shortened fingers or toes.
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prevention
Since the disease is genetic, it cannot be prevented in the strict sense. However, a healthy lifestyle, a balanced diet and avoiding nicotine, alcohol, drugs and medication – especially during pregnancy – can prevent possible birth defects.
Diagnose
A careful examination of the hands and feet by a specialist doctor is usually sufficient to diagnose brachydactyly. X-rays can then be used to determine which bones are shortened and what type of brachydactyly it is.
A full skeletal x-ray can be taken to determine if it is part of a genetic syndrome. There shows whether other bones in the body are abnormal and indicate a syndrome. Finally, a genetic test brings certainty.
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treatment options
physical therapy
In rare cases, brachydactyly can be severe enough to cause problems with limb functionality. In these cases, physiotherapy can help to increase mobility, strength and functionality of the affected areas.
surgical intervention
Surgery is only the treatment of choice in extreme and very rare cases, or if there is a concomitant disease. Plastic surgery can serve cosmetic purposes or, in rare cases, improve functionality. Surgical procedures can include an osteotomy, in which one or more bones are severed and then corrected.
Optical correction by manicure
Type D sufferers often use artificial nails to optically lengthen and balance their so-called hammer thumb.
Psychological help
Some of those affected are ashamed of their illness and try to hide the malformation. If this limits your quality of life and determines your behavior, then it is advisable to seek psychological support from a specialist. But sometimes it helps to know that you are not alone and that you share your fate with celebrities such as Megan Fox.
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treatment costs
Treatments for purely aesthetic reasons are usually not covered by health insurance. However, if there are pronounced mental illnesses or physical limitations, this usually justifies the assumption of costs.
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– with expert advice from dr medical Christopher Poothspecialist in general medicine, Munich