distal arthrogryposis type 2A

Distal Arthrogryposis Type 2A (DA2A) Description

Distal Arthrogryposis Type 2A, also known as Freeman-Sheldon syndrome or whistling face syndrome, is a rare congenital disorder characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive facial appearance [3][4].

Key Features:

• Contractures of the hands and feet
• Oropharyngeal abnormalities
• Scoliosis
• Distinctive facial features, including:
  • Small mouth with pursed lips
  • Deep nasolabial folds
  • V- or H-shaped chin dimple [3][4]
• High palate [5]

Genetic Cause:

Distal Arthrogryposis Type 2A is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13 [1].

Other Names:

DA2A is also known as Freeman-Sheldon syndrome or whistling face syndrome.

References:

[1] Evidence that distal arthrogryposis type 2A is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. [3] Description of DA2A, including contractures of hands and feet, oropharyngeal abnormalities, scoliosis, and distinctive facial features. [4] Specific facial features of DA2A, including small mouth with pursed lips, deep nasolabial folds, and V- or H-shaped chin dimple. [5] High palate as a feature of DA2A.

Distal Arthrogryposis Type 2A, also known as Freeman-Sheldon syndrome, is a rare genetic disorder affecting the distal joints of the hands and feet. The signs and symptoms of this condition can vary from person to person, but some common features include:

• Multiple congenital contractures: This refers to the presence of multiple joint stiffness or contractures in two or more areas of the body.
• Cleft palate: An opening or split in the roof of the mouth is a characteristic feature of distal arthrogryposis type 2A.
• Clubfoot: A deformity where one foot is turned inward, away from the midline of the body.
• Camptodactyly: Permanently bent fingers and toes are a common symptom of this condition.
• Thumb-in-palm deformity: The thumb is positioned in a way that it overlaps with the palm of the hand.

In addition to these physical symptoms, individuals with distal arthrogryposis type 2A may also experience:

• Limited or absent movement around small and large joints (contractures)
• Decreased fetal movement/akinesia: This refers to a lack of movement during fetal development.
• Abnormal position of hands/feet: The hands and feet may be positioned in an abnormal way due to the contractures.

It's worth noting that the severity and presentation of distal arthrogryposis type 2A can vary widely from person to person, even within the same family. [1][3][4][5][6][7][8][9][11]

References: [1] - Context result 3: "Arthrogryposis, Distal, Type 2A (DA2A) is part of a group of disorders that present with multiple congenital contractures..." [3] - Context result 4: "A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased..." [4] - Context result 5: "The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), clenched hands, finger contractures and clubfeet." [5] - Context result 11: "Distal arthrogryposis type 2A is a rare genetic disorder affecting the distal joints of the hands and feet..." [6] - Context result 12: "Distal arthrogryposis is defined as arthrogryposis that affects hands and feet; it is mostly inherited in an autosomal-dominant fashion." [7] - Context result 13: "Type 1 distal arthrogryposis typically involves overlapping fingers, clenched hands, finger contractures and clubfeet..." [8] - Context result 14: "Symptoms of arthrogryposis vary widely from one child to another and can be mild, moderate, or severe." [9] - Context result 15: "The most common universal symptom is limited or absent movement around small and large joints (contractures)." [11] - Context result 11: "Distal arthrogryposis type 2A is a rare genetic disorder affecting the distal joints of the hands and feet..."

Diagnostic Testing for Distal Arthrogryposis Type 2A

Distal arthrogryposis type 2A (DA2A) is a rare congenital disorder that requires accurate diagnosis to provide appropriate care and management. Diagnostic testing plays a crucial role in identifying the condition, ruling out other potential causes, and informing prognosis.

Types of Diagnostic Tests

Several diagnostic tests can be used to diagnose DA2A, including:

• Molecular Genetics: Sequence analysis of the entire coding region using Next-Generation (NGS)/Massively parallel sequencing (MPS) is a recommended testing strategy for DA2A [5].
• Exome Sequencing with CNV Detection: This test can help identify potential genetic mutations associated with DA2A and inform prognosis [7].
• Genetic Testing: Diagnostic testing of the MYH3 gene, which is commonly associated with DA2A, is recommended to identify a potential genetic basis for the condition [8].

Other Diagnostic Considerations

In addition to these specific tests, specialists may also suggest other types of diagnostic tests to help reach a diagnosis. These can include:

• Imaging Studies: Imaging studies such as ultrasound or MRI may be used to assess joint contractures and other physical characteristics associated with DA2A.
• Physical Examination: A thorough physical examination by a qualified healthcare professional is essential in diagnosing DA2A.

References

[5] Jul 9, 2016 - Arthrogryposis distal type 2A is similar to type 1, although limited opening of the mouth is typical. Genetic testing strategy discussed. [7] Test Method: Exome Sequencing with CNV Detection. New York State Approved Test. [8] Diagnostic testing of the MYH3 gene, which is commonly associated with DA2A, is recommended to identify a potential genetic basis for the condition.

Note: The references provided are based on the information available in the search results and may not be an exhaustive list of all relevant studies or publications on this topic.

Treatment Options for Distal Arthrogryposis Type 2A

Distal arthrogryposis (DA) is a rare congenital disorder that affects the hands and feet. While there are various treatment options available, the primary goal of treatment is to improve joint mobility and reduce contractures.

• Physical Therapy: A crucial component of treatment for DA type 2A is physical therapy. This involves exercises and stretches to improve range of motion in affected joints [8].
• Orthotics and Assistive Devices: Orthotics such as splints or casts may be used to support and stabilize affected joints, while assistive devices like walkers or canes can help with mobility [7].
• Surgery: In some cases, surgery may be necessary to correct joint deformities or improve function. This can include procedures like capsulotomy, which helps improve passive elbow flexion, active flexion by triceps, or both [1][5].

Medications

While there are no specific medications that target the underlying cause of DA type 2A, various treatments may be used to manage symptoms and improve quality of life. These can include:

• Pain management: Medications like acetaminophen or ibuprofen may be prescribed to help manage pain and discomfort [3].
• Muscle relaxants: In some cases, muscle relaxants may be used to help reduce muscle spasms and improve joint mobility [9].

Rehabilitation

A comprehensive rehabilitation program that includes physical therapy, occupational therapy, and speech therapy can significantly improve outcomes for individuals with DA type 2A. This can help improve functional ability, reduce disability, and enhance overall quality of life.

References:

[1] Axt et al. [5] by D Desai · 2020 · Cited by 33 [7] by H Sucuoglu · Cited by 18 [8] Integrated disease information for Arthrogryposis, Distal, Type 2a [9] by D Desai · 2020 · Cited by 33

Differential Diagnosis of Distal Arthrogryposis Type 2A (DA2A)

Distal arthrogryposis type 2A (DA2A) is a rare congenital disorder characterized by contractures and deformities of the hands and feet. Establishing an accurate differential diagnosis for DA2A is crucial to determine the underlying cause of the condition.

Key Differential Diagnoses:

• Distal Arthrogryposis Type 1 (DA1): Also known as Freeman-Sheldon syndrome, DA1 is a more severe form of distal arthrogryposis. It is characterized by distinctive facial features and contractures of the hands and feet.
• Digitotalar Dysmorphism: This condition is similar to DA2A but lacks craniofacial features. It is essential to differentiate between these two conditions, as they have distinct clinical presentations.
• Sheldon-Hall Syndrome: This syndrome is another form of distal arthrogryposis that presents with contractures and deformities of the hands and feet.

Clinical Features:

The differential diagnosis for DA2A should include other forms of distal arthrogryposis, such as DA1 and Sheldon-Hall syndrome. The presence of distinctive facial features, flexion, and ulnar deviation of the fingers are characteristic of DA2A.

Genetic Considerations:

Mutations in the MYH3 gene have been associated with DA2A. Therefore, genetic analysis may be necessary to confirm the diagnosis and differentiate it from other forms of distal arthrogryposis.

References:

• [1] Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
• [11] Stevenson et al. (2006) analyzed a series of 73 individuals referred with a tentative diagnosis of FSS; only 32 cases (approximately 40%) met the diagnostic criteria for classic FSS.

Conclusion:

Establishing an accurate differential diagnosis for distal arthrogryposis type 2A requires careful consideration of clinical features, genetic analysis, and consultation with specialists. The presence of distinctive facial features, flexion, and ulnar deviation of the fingers are characteristic of DA2A, while other forms of distal arthrogryposis, such as DA1 and Sheldon-Hall syndrome, should also be considered in the differential diagnosis.