brachydactyly-syndactyly syndrome

Brachydactyly-syndactyly syndrome, also known as Zhao type, is a rare genetic disorder characterized by shortening of the hands and feet, broad and short distal phalanges of thumbs, cutaneous syndactyly (webbing between fingers or toes), and other limb malformations.

Key Features:

• Generalized shortening of hands and feet
• Broad and short distal phalanges of thumbs
• Cutaneous syndactyly (webbing between fingers or toes)
• Short middle phalanges of the 2nd and 5th fingers (brachydactyly type A4)

Causes:

• The syndrome is caused by a heterozygous mutation in the HOXD13 gene on chromosome 2q31.
• This genetic mutation affects limb development, leading to the characteristic features of brachydactyly-syndactyly syndrome.

**Preval

Brachydactyly-syndactyly syndrome, also known as Zhao type, is a rare genetic disorder that affects the development of hands and feet. The major symptom of this condition is short bones in the hands and feet, which can cause fingers and toes to appear shorter than normal in proportion to the rest of the body.

Some common features of brachydactyly-syndactyly syndrome include:

• Short middle phalanges of the 2nd and 5th fingers (type A4) [1]
• Webbed skin between fingers or toes, which can be a common feature of syndactyly [3]
• Fingers or toes may be joined all the way from the base to the tip or only partway up [4]
• Short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), and webbing of the skin between fingers are common hand abnormalities in this syndrome [6]

In severe cases, the fingers may be about half of their normal length, with the middle phalanges of all digits being either absent or very hypoplastic [5]. This can lead to significant functional impairment and cosmetic concerns.

It's worth noting that brachydactyly-syndactyly syndrome is a rare condition, and not much information is available on its symptoms and causes. However, based on the search results provided, it appears that short bones in the hands and feet are the major symptom of this condition, with various hand abnormalities being common features.

References: [1] - Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers) [2] [3] - Webbed skin between fingers or toes is a common feature of syndactyly. Fingers or toes may be joined all the way from the base to the tip or only partway up. [4] [5] - In the severe variety, the fingers are about half of the normal length, the middle phalanges of all digits are either absent or very hypoplastic ... [5] [6] - Short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between fingers are common hand abnormalities in this syndrome. [6]

Brachydactyly-syndactyly syndrome, a rare genetic disorder characterized by short fingers and toes, can be diagnosed through various diagnostic tests.

Genetic Testing: A 21 gene panel that includes assessment of non-coding variants is ideal for patients with brachydactyly and/or syndactyly. This test assesses the presence of genetic mutations associated with the syndrome [1].

Clinical Genetic Test: A clinical genetic test offered by Intergen can also be used to diagnose brachydactyly-syndactyly syndrome. This test evaluates the HOXD13 gene, which is commonly affected in this condition [3].

Radiological Imaging: X-rays and other radiological imaging techniques can help determine the type of brachydactyly present. An X-ray can also be used to assess the severity of syndactyly [6][7].

Blood Test: A gene test, a type of blood test, can also be used to diagnose brachydactyly-syndactyly syndrome by detecting genetic mutations associated with the condition [5].

It's worth noting that prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be considered in cases where there are other associated abnormalities [9].

Brachydactyly-syndactyly syndrome, also known as Zhao type, is a rare genetic disorder characterized by short fingers and webbing between the fingers. While there is no specific treatment for this condition, various therapies can help improve function and mobility.

• Physical therapy: This can help improve range of motion and strength in the affected hands.
• Occupational therapy: This can assist with daily activities and provide adaptive techniques to compensate for any functional limitations.
• Hand therapy: A specialized form of physical therapy that focuses on treating hand and upper limb injuries or conditions.

However, it's essential to note that surgery may be necessary to correct the webbing between the fingers. The surgical approach depends on the severity of the condition and can range from simple release procedures to more complex reconstructive surgeries.

According to search result [6], syndactyly (webbed fingers) is treatable with surgery, which takes place during early childhood. Children with webbed fingers need surgery to separate fingers, improve hand function, and enhance overall quality of life.

In some cases, brachydactyly-syndactyly syndrome may not require treatment, as it does not affect the function of the hand (search result [7]). However, if symptoms are severe or interfere with daily activities, a multidisciplinary approach involving physical therapy, occupational therapy, and possibly surgery can be beneficial.

References:

• Search result [6]: Syndactyly is treatable with surgery, which takes place during early childhood. Children with webbed fingers need surgery to separate fingers, improve hand function, and enhance overall quality of life.
• Search result [7]: Typically, brachydactyly does not affect the function of the hand, so there is no need for treatment for all patients, and there is no general, specific treatment.

Brachydactyly-syndactyly syndrome, also known as Brachymesophalangism-Syndactyly syndrome, is a rare genetic disorder characterized by short fingers (brachydactyly) and webbed or fused fingers (syndactyly). When considering the differential diagnosis for this condition, several other conditions should be taken into account.

• Pseudohypoparathyroidism (PHP): This is a genetic disorder that can cause short stature, short fingers, and other skeletal abnormalities. It is often associated with intellectual disability and developmental delays [1].
• Acrodysostosis: This is a rare genetic disorder characterized by shortening of the distal phalanges, nail dysplasia, and clinodactyly of the 5th digit. It can be differentiated from brachydactyly-syndactyly syndrome due to its severity and presence of subcutaneous ossification [5].
• Down syndrome: This is a genetic disorder caused by an extra copy of chromosome 21. Brachydactyly can be a symptom of Down syndrome, although it is not a primary characteristic [7].
• Syndactyly: This is a condition in which children are born with fused or webbed fingers. It can be an isolated finding or associated with other abnormalities such as polydactyly, cleft hands, and ring constrictions [8].

These conditions should be considered when making a differential diagnosis for brachydactyly-syndactyly syndrome. A thorough clinical evaluation, anthropometric measurements, and radiological studies are essential to confirm the diagnosis.

References: [1] SA Temtamy · 2008 [5] A Pereda · 2013 [7] (no specific reference) [8] Mar 1, 2024