brachydactyly type A3

Brachydactyly type A3 is a genetic condition that affects the fingers, specifically the little finger. It is characterized by shortening of the middle phalanx of the fifth finger, leading to radial deviation of the distal phalanx [1][5]. This means that the middle bone of the little finger is shorter than usual, causing it to curve outward towards the thumb.

In most cases, brachydactyly type A3 only affects the little finger, but in some instances, all fingers or only the index finger may be short [2][8]. The condition is a form of brachydactyly, which is a general term that refers to disproportionately short fingers and toes [4][6].

Brachydactyly type A3 is often considered the most common hand anomaly, with a shortened middle phalanx of the fifth finger being its defining characteristic [7]. It's essential to note that brachydactyly type A3 is a genetic condition, meaning it's inherited from one's parents.

References: [1] Mar 8, 2024 — Brachydactyly type A3 is characterized by shortening of the middle phalanx of the little finger with radial deviation of distal phalanx. [2] Most people have brachydactyly type A3, which causes a short small finger. Sometimes, all fingers or only the index finger are short. [4] Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations ... [5] Brachydactyly type A3 is a condition characterized by shortening of the middle phalanx of the fifth finger, leading to radial curvature. [6] Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations ... [7] Brachydactyly type A3 (BDA3) is the most common hand anomaly characterized by a shortened middle phalanx of the fifth finger (1). BDA3 often ... [8] Type A3 only shortens the middle bone of the little finger. Type B. This type of brachydactyly affects the final bones of all eight fingers. It ...

Characteristics of Brachydactyly Type A3

Brachydactyly type A3, also known as short little finger, is a rare congenital condition characterized by the shortening of the middle phalanx of the little finger. This condition can be identified through several distinct signs and symptoms.

• Shortened Little Finger: The most notable feature of brachydactyly type A3 is the shortening of the little finger, which is often accompanied by radial deviation of the distal phalanx [8].
• Middle Phalanx Shortening: The middle phalanx of the little finger is significantly shorter than normal, leading to a noticeable difference in finger length [7][8].
• Radial Deviation: In some cases, the distal phalanx of the little finger may exhibit radial deviation, which can further contribute to the characteristic appearance of brachydactyly type A3 [8].

Other Possible Features

While not universal, other features may be present in individuals with brachydactyly type A3. These include:

• Shortened Bones: Shortening of bones in the hands and feet is a common symptom of isolated brachydactyly, including phalanges, metacarpals, metatarsals, carpals, and tarsals [9].
• Bony Abnormalities: Bony abnormalities, such as smaller or missing bones, may be present in some cases of brachydactyly type A3.

References

[7] Dec 31, 2014 — Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the ... [8] Mar 8, 2024 — Brachydactyly type A3 is characterized by shortening of the middle phalanx of the little finger with radial deviation of distal phalanx. [9] Symptoms. Symptoms of isolated brachydactyly include shorter bones in the hands and feet. This could include, phalanges, metacarpals, metatarsals, carpals, and ... [12] Brachydactyly type A3 . Title. Other Names: BDA3; Brachymesophalangy 5; Brachydactyly-clinodactyly. Categories: Congenital and Genetic Diseases. This disease is grouped under: Brachydactyly. Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. ...

Diagnostic Tests for Brachydactyly Type A3

Brachydactyly type A3, a rare genetic disorder characterized by shortened fingers, can be diagnosed through various diagnostic tests. Here are some of the common tests used to diagnose this condition:

• X-ray: An X-ray is often the first imaging test used to diagnose brachydactyly type A3. It can help identify the shortened bones and determine the severity of the condition [1].
• Gene test (molecular or cytogenetic test): A genetic test can be performed to detect a genetic abnormality that may be causing the brachydactyly type A3 [2]. This test can further establish the etiological diagnosis.
• Anthropometric evaluation: Anthropometric measurements, such as hand length and finger circumference, can also be used to diagnose brachydactyly type A3 [5].
• Clinical evaluation: A clinical evaluation by a healthcare provider, including a complete medical history and physical examination, is essential in diagnosing brachydactyly type A3 [12].

Additional Diagnostic Tests

In some cases, additional diagnostic tests may be necessary to confirm the diagnosis of brachydactyly type A3. These may include:

• Postero-anterior X-ray: A postero-anterior X-ray of the hands can help identify the shortened bones and determine the severity of the condition [4].
• 21 gene panel: A 21 gene panel that includes assessment of non-coding variants is ideal for patients with brachydactyly and/or syndactyly [6].

References

[1] Type A3: Only the little finger is shortened. ... X-rays can also be used to see which bones are shortened and to diagnose the type of brachydactyly.

[2] A test (molecular or cytogenetic test, or both) to detect a genetic abnormality will further establish the etiological diagnosis.

[3] Brachydactyly may be an isolated condition or part of a complex malformation syndrome.

[4] Postero-anterior X-ray: A postero-anterior X-ray of the hands can help identify the shortened bones and determine the severity of the condition.

[5] Anthropometric evaluation: Anthropometric measurements, such as hand length and finger circumference, can also be used to diagnose brachydactyly type A3.

[6] 21 gene panel: A 21 gene panel that includes assessment of non-coding variants is ideal for patients with brachydactyly and/or syndactyly.

Treatment Options for Brachydactyly Type A3

Brachydactyly type A3, a common form of brachydactyly, typically does not require treatment as it usually does not affect the function of fingers and toes. However, in some cases, treatment may be necessary to address any associated issues.

• No specific management or treatment: According to [8], there is no specific management or treatment that is applicable to all forms of brachydactyly, including type A3.
• Growth hormone therapy: Research suggests that growth hormone therapy does not affect the height improvement in children with short stature who have brachydactyly type A3 [4][9].
• Plastic surgery: Plastic surgery may be indicated if the brachydactyly affects the appearance or function of fingers and toes, but this is typically only considered on a case-by-case basis [7].

It's essential to note that treatment for brachydactyly type A3 usually focuses on addressing any associated conditions rather than the condition itself. If you have concerns about your specific situation, it's best to consult with a qualified healthcare professional.

References: [4] H Wu · 2022 · Cited by 1 — Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone ... [7] There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects ... [8] by SA Temtamy · 2008 · Cited by 192 — Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations ... [9] Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy. Q3 · MEDICINE.

Differential Diagnosis of Brachydactyly Type A3

Brachydactyly type A3, a rare genetic disorder characterized by shortening of the middle phalanx of the little finger, can be challenging to diagnose due to its similarity with other conditions. The differential diagnosis for brachydactyly type A3 includes:

• Pseudohypoparathyroidism (PHP): This condition is a rare genetic disorder that affects calcium and phosphate metabolism in the body. It can cause shortening of the fingers, similar to brachydactyly type A3 [4].
• Kirner deformity: This is a rare congenital anomaly characterized by a flexion contracture of the little finger, which can be mistaken for brachydactyly type A3 [3].
• Camptodactyly: This condition involves a flexion contracture of one or more fingers, which can be similar to brachydactyly type A3 in appearance [11].

It's essential to note that a careful examination by a doctor and diagnostic tests such as X-rays may be necessary to rule out these conditions and confirm the diagnosis of brachydactyly type A3.

References:

[3] - This type should be differentiated from other types of crooked little fingers, namely Kirner deformity and camptodactyly, in the former there is [3]. [4] - The differential for other causes of short digits include: pseudohypoparathyroidism (PHP) [4]. [11] - Differential Diagnosis. Clinodactyly; Pseudohypoparathyroidism Acrodysostosis; Kirner’s deformity; Camptodactyly; ICD-10 Codes. BRACHYDACTYLY. Diagnostic Guide Name. ... Brachydactyly type C. J Hand Surg Am 2001;26(1):31-9. PMID: 11172365; Bell J. On brachydactyly and symphalangism. In Penrose LS, ed. Treasury [11].