brachydactyly type A1C

Brachydactyly type A1C, also known as BDA1C, is a rare genetic disorder that affects the development of the hands and feet. It is characterized by shortening of the middle phalanges (the bones in the fingers and toes) and fusion with the terminal phalanges.

Key Features:

• Shortened middle phalanges in all digits
• Fusion of middle phalanges with terminal phalanges
• Proximal phalanges of thumbs and big toes are short

This condition is caused by a mutation in the GDF5 gene on chromosome 20q11. It is a type of brachydactyly, which is a group of rare genetic disorders that affect the development of the hands and feet.

Prevalence: Brachydactyly type A1C is a rare condition, and its exact prevalence is unknown. However, it is estimated to be one of the many types of brachydactyly, which collectively affect around 2% of the population.

Impact on Daily Life: Most cases of brachydactyly type A1C do not significantly impact daily life or functionality. The condition is primarily cosmetic and does not affect the ability to use fingers or toes normally.

References:

• [6] - Brachydactyly type A1C | Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
• [8] - Definition: A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
• [9] - A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
• [10] - Brachydactyly type A1C Synonyms Brachydactyly, type a1, c. Summary. Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.

Brachydactyly Type A1C Signs and Symptoms

Brachydactyly type A1C is a rare genetic disorder characterized by short fingers, specifically the thumb. The condition is caused by a homozygous mutation in the GDF5 gene on chromosome 20q11.

• Thumb Stiffness: One of the primary symptoms of brachydactyly type A1C is stiffness in the thumb, which can make it difficult to perform everyday activities that require grasping or gripping.
• Metacarpal Abnormalities: The condition also affects the metacarpal bones, which are the long bones in the hand that connect to the fingers. These abnormalities can lead to a range of symptoms, including pain and stiffness in the hand and wrist.
• Mild Facial Dysmorphism: Some individuals with brachydactyly type A1C may also experience mild facial dysmorphism, which refers to subtle abnormalities in the shape or structure of the face.

Other Possible Symptoms

While less common, other possible symptoms of brachydactyly type A1C include:

• Limited Range of Motion: Individuals with this condition may experience limited range of motion in the thumb and hand.
• Pain and Stiffness: Pain and stiffness in the hand, wrist, or fingers can also occur due to the abnormal growth of the metacarpal bones.

Diagnosis

A diagnosis of brachydactyly type A1C is typically made through a combination of clinical evaluation, medical history, and genetic testing. X-rays may be ordered to confirm the presence of metacarpal abnormalities.

References:

• [3] - Brachydactyly Symptom Checker: Possible causes include Pseudoachondroplasia.
• [4] - by K Stange · 2015 · Cited by 4 — We report on a Brachydactyly Type C (BDC) patient with clinically inconspicuous parents. Molecular genetic analyses revealed compound heterozygosity for two ...
• [9] - Definition: A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO) ; Synonyms: ...

Diagnostic Tests for Brachydactyly Type A1C

Brachydactyly type A1C is a genetic disorder that affects the development of fingers and toes, causing them to be shorter than normal. Diagnosing this condition typically involves a combination of physical examination, medical history review, and genetic testing.

• Physical Examination: A thorough physical examination by a healthcare professional can help identify the characteristic features of brachydactyly type A1C, such as shortened or underdeveloped middle phalanges of all digits [7].
• Genetic Testing: Genetic testing is often used to confirm the diagnosis of brachydactyly type A1C. This involves analyzing the GDF5 gene on chromosome 20q11.22 for mutations that cause the condition [3][8]. The genetic test may include sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Intergen [10].
• Clinical Molecular Genetics Test: A clinical molecular genetics test is available for brachydactyly type A1C, which includes sequence analysis of the entire coding region and NGS/MPS offered by Intergen [10].

It's essential to note that a diagnosis of brachydactyly type A1C should only be made by a qualified healthcare professional after a thorough evaluation.

References:

[3] Brachydactyly type A1C is typically diagnosed based on a physical examination and a review of the patient's medical history. Genetic testing may also be used to confirm the diagnosis [3].

[7] A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges [7].

[8] Definition: A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. Term Browser · Genes (2) [8].

[10] Clinical Molecular Genetics test for Brachydactyly type A1C and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Intergen [10].

Treatment Options for Brachydactyly Type A1C

Brachydactyly type A1C (BDA1C) is a rare genetic disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without other skeletal abnormalities. While there is no cure for BDA1C, various treatment options are available to manage its symptoms and improve quality of life.

Surgical Interventions

In some cases, surgical interventions may be necessary to correct deformities or improve function. These procedures can include:

• Osteotomy: A surgical procedure that involves cutting and repositioning bones to correct deformities.
• Bone grafting: A surgical procedure that involves transplanting bone tissue from one part of the body to another to repair damaged or missing bones.

Pharmacological Treatments

While there are no specific medications approved for the treatment of BDA1C, various pharmacological agents may be used to manage related symptoms such as pain and inflammation. These include:

• Pain management medications: Such as acetaminophen or NSAIDs (nonsteroidal anti-inflammatory drugs) to alleviate pain and discomfort.
• Anti-inflammatory medications: To reduce swelling and inflammation.

Other Therapeutic Options

In addition to surgical interventions and pharmacological treatments, other therapeutic options may be considered for BDA1C. These include:

• Physical therapy: To improve range of motion and strength in affected limbs.
• Occupational therapy: To adapt daily activities and improve functional ability.
• Orthotics and assistive devices: To provide support and stability for affected limbs.

Current Research and Future Directions

Research is ongoing to better understand the genetic basis of BDA1C and to develop more effective treatment strategies. Emerging therapies, such as gene therapy and stem cell therapy, may hold promise for future treatments.

References:

• [3] Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without other skeletal abnormalities.
• [13] Definition. Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
• [15] Brachyd

Brachydactyly type A1C is a rare genetic disorder characterized by short fingers and toes, with the proximal phalanges of the thumbs and big toes being particularly affected. When considering differential diagnoses for brachydactyly type A1C, several conditions should be taken into account.

• Pseudoachondroplasia: This is a rare genetic disorder that affects bone growth and development, leading to short stature, short fingers and toes, and other skeletal abnormalities [6].
• Brachydactyly type C: This condition is also characterized by short fingers and toes, but it can be distinguished from brachydactyly type A1C by the presence of additional skeletal abnormalities, such as joint deformities and shortening of the long bones [5].
• Growth hormone deficiency: In some cases, growth hormone deficiency can lead to short stature and short fingers and toes, although this is relatively rare compared to other causes of brachydactyly type A1C.
• Other genetic disorders: Various other genetic disorders, such as achondroplasia and thanatophoric dysplasia, can also present with short fingers and toes. However, these conditions typically have additional characteristic features that distinguish them from brachydactyly type A1C.

It's essential to note that a definitive diagnosis of brachydactyly type A1C requires genetic testing, which can confirm the presence of mutations in the GDF5 gene [3]. In some cases, imaging studies such as X-rays and MRIs may also be necessary to rule out other potential causes of short fingers and toes.

A healthcare provider will typically diagnose brachydactyly type A1C after a complete medical history, physical examination, and ordering an X-ray and potentially a genetic test [11]. Early diagnosis is crucial for providing appropriate management and support for individuals affected by this condition.