brachydactyly

Brachydactyly, also known as "short digits," refers to a medical condition characterized by abnormally short fingers and toes at birth. The shortness is relative to the length of other long bones and other parts of the body [1].

There are different types of brachydactyly, with some being more common than others. Brachydactyly can occur in isolation or as part of a larger genetic condition [2]. In some cases, it may be associated with other limb malformations characterized by bone dysostosis [3].

The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly type D, also known as short thumb, stub thumb, or clubbed thumb, is a genetic trait clinically recognized by a thumb being relatively short and round with an accompanying wider nail bed [4].

Brachydactyly can be described in various ways, including:

• Shortening of the distal phalanges
• Nail dysplasia
• Clinodactyly of the 5th digit
• Digits that appear disproportionately short compared to the hand/foot

Overall, brachydactyly is a rare genetic condition characterized by abnormally short fingers and toes [5].

References:

[1] - Brachydactyly (from Greek βραχύς (brachus) 'short' and δάκτυλος (daktulos) 'finger') is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth.

[2] - Brachydactyly can occur in isolation or as part of a larger genetic condition.

[3] - In some cases, it may be associated with other limb malformations characterized by bone dysostosis.

[4] - Brachydactyly type D, also known as short thumb, stub thumb, or clubbed thumb, is a genetic

Brachydactyly, also known as short digits, is a congenital condition characterized by abnormally short fingers or toes. The signs and symptoms of brachydactyly can vary depending on the type and severity of the condition.

Common Symptoms:

• Shortened bones in the hands and feet [5]
• Shorter fingers or toes compared to the rest of the body [2, 6]
• Missing fingers or thumb [6]
• Short fingers [6]

Rare Cases:

• Trouble walking and using fingers due to short bones in the hands and feet [3]
• Very flexible joints (hyperextensibility) in the hands [4]
• Short stature compared to family members without the disorder [4]

Types of Brachydactyly:

• Isolated brachydactyly, which is a standalone condition with no other symptoms [5]
• Brachydactyly type E, which is a genetic condition that can also cause short stature and hyperextensibility in the hands [4]

Inheritance:

• Brachydactyly is generally inherited from parents who have the condition or carry the gene for it [5]

It's essential to note that most cases of brachydactyly do not affect daily life, and the condition is primarily cosmetic. However, in rare cases, individuals may experience difficulties with walking and using their fingers.

References: [1] Not available [2] April 27, 2023 - Brachydactyly is when someone is born with fingers significantly shorter than they should be. [3] May 1, 2024 - Most cases of brachydactyly don’t affect how you’re able to use your fingers or toes. [4] November 8, 2021 - Brachydactyly type E is a genetic ... Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature). [5] 4 weeks ago - Generally, brachydactyly is inherited ... or low blood flow to the extremities during infancy. Symptoms of isolated brachydactyly include shorter bones in the hands and feet. [6] Jun 13, 2018 — What are the signs and symptoms of brachydactyly (symbrachydactyly)? · Missing fingers or thumb

Brachydactyly, a condition characterized by short fingers and toes, can be diagnosed through various diagnostic tests.

Physical Examination and Medical History: A complete medical history and physical examination are essential in diagnosing brachydactyly. Your healthcare provider will assess your symptoms and perform a thorough physical exam to identify any abnormalities in your hands and feet [1].

X-ray Imaging: An X-ray is often used to confirm the diagnosis of brachydactyly. It can show which bones are short, helping your healthcare provider determine the severity of the condition [2]. In some cases, a full skeletal X-ray may be done to rule out any syndromes that may be associated with brachydactyly.

Genetic Testing: Genetic testing is also used to diagnose brachydactyly. It can help identify the gene responsible for your symptoms and determine if you have an isolated form of the condition or a syndrome [3]. A genetic test may be necessary to establish the etiological diagnosis, especially in cases where there are other abnormalities present.

Other Diagnostic Tests: Depending on the severity of your symptoms and any additional abnormalities present, your healthcare provider may conduct further diagnostic tests. These can include molecular or cytogenetic testing to detect a genetic abnormality [4].

It's essential to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan. They will determine the best course of action based on your individual needs.

References: [1] May 1, 2024 - 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. [2] July 26, 2017 - To determine if brachydactyly is part of a syndrome, a full skeletal X-ray may be done. This can help determine if other bones in the body are abnormal, which suggests a syndrome. [3] Learn about diagnosis and specialist referrals for Brachydactyly type A3. [4] by A David · 2015 · Cited by 17 — A test (molecular or cytogenetic test, or both) to detect a genetic abnormality will further establish the etiological diagnosis.

Treatment Options for Brachydactyly

Brachydactyly, a congenital condition characterized by short fingers and toes, typically does not require treatment as it doesn't affect the function of the hands and feet. However, in some cases, treatment may be necessary to address associated conditions or improve hand function.

• No specific management: There is no general, specific management or treatment that is applicable to all forms of brachydactyly [3].
• Surgery for symbrachydactyly: In the case of symbrachydactyly, a more severe form of brachydactyly, surgery may be performed to improve hand function and appearance [8].
• No treatment necessary: In most cases, no treatment is necessary as the condition does not affect the quality of life or require medical intervention [1], [2], [5].

Associated Conditions

Brachydactyly can be caused by various factors, including:

• Medications during pregnancy: Certain medications taken by expectant mothers may cause brachydactyly in their children [4].
• Blood flow disorders: Blood flow disorders to the arm or leg during childhood can also lead to brachydactyly [7].

Current Research

Research on brachydactyly is ongoing, and new studies are being conducted to better understand this condition. However, as of now, there is no definitive treatment for brachydactyly [5], [10].

Brachydactyly, a condition characterized by shortening of the fingers and toes due to unusually short bones [7], can be part of a larger genetic condition or syndrome. In some cases, it may be isolated, but in others, it can be associated with various syndromes that involve multiple symptoms.

Some of these syndromes include:

• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome [9]
• Robinow syndrome, which is characterized by shortening of the distal phalanges, nail dysplasia, and clinodactyly of the 5th digit [8]

The differential diagnosis for brachydactyly involves considering these syndromes, as well as other conditions that may present with similar symptoms. The clinical spectrum can range from minor digital hypoplasia to complete aplasia, and it most commonly involves the middle phalanx [2].

In addition to these syndromes, there are other conditions that may be considered in the differential diagnosis for brachydactyly, such as:

• Brachydactyly type E, which is a specific type of brachydactyly that affects the hands and feet [5]
• Other genetic conditions that result in short stature or other physical abnormalities

The key to making an accurate differential diagnosis is to consider all possible causes of brachydactyly and to evaluate each patient's unique clinical presentation. This may involve a combination of clinical evaluation, biochemical testing, and genetic analysis.

References:

[2] July 30, 2024 - The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. [5] In addition, there are other syndromes ... as brachydactyly type E, some of which will also be discussed. [7] Brachydactyly, a condition characterized by shortening of the fingers and toes due to unusually short bones. [8] Robinow syndrome, which is characterized by shortening of the distal phalanges, nail dysplasia, and clinodactyly of the 5th digit. [9] Prognosis may differ with different types or syndromes.