distal arthrogryposis type 3

Distal Arthrogryposis Type 3 (DA3) Description

Distal arthrogryposis type 3, also known as Gordon syndrome, is a rare genetic disorder characterized by congenital contractures of the hands and feet. It is distinguished from other distal arthrogryposes by short stature and may include additional abnormalities such as cleft palate, camptodactyly, clubfoot, and other physical features.

Key Features:

• Congenital contractures of the hands and feet
• Short stature
• Cleft palate (in some cases)
• Camptodactyly (bent fingers)
• Clubfoot (a deformity of the foot)

Inheritance Pattern: Distal arthrogryposis type 3 is inherited in an autosomal-dominant fashion, meaning that a single copy of the mutated gene is enough to cause the condition.

Prevalence: The exact prevalence of DA3 is unknown, but it is considered a rare genetic disorder.

References:

• [1] Gordon syndrome (DA3) is distinguished from other distal arthrogryposes by short stature and cleft palate. ([5])
• Distal arthrogryposis type 3 (Gordon syndrome) is a rare and inherited disorder that affects movement in the joints of the upper and lower limbs. ([8])
• DA3, or Gordon syndrome, is distinguished from other distal arthrogry

Distal Arthrogryposis Type 3 (DA3) or Gordon Syndrome

Distal Arthrogryposis Type 3, also known as Gordon Syndrome, is a rare genetic disorder that predominantly affects the muscles and joints. The condition typically presents with contractures in the hands and feet, which can significantly impact mobility and dexterity.

Common Signs and Symptoms:

• Contractures in the hands and feet, leading to permanently tightened joints
• Limited or absent movement in the affected joints
• Short stature, as mentioned in [5] and [9]
• Cleft palate, a characteristic feature of DA3, as noted in [5] and [9]

Other Possible Symptoms:

• Overlapping fingers and clenched hands, commonly seen in Type 1 distal arthrogryposis, but can also occur in DA3
• Finger contractures and clubfeet, which are often associated with other types of distal arthrogryposis

It's essential to note that the signs and symptoms of DA3 can vary from person to person, even within the same family. A thorough medical evaluation is necessary for an accurate diagnosis and treatment plan.

References: [5] - Short stature and cleft palate are distinguishing features of DA3. [9] - Similar characteristics of DA3 as mentioned in [5]. [11] - General information about arthrogryposis, which includes distal arthrogryposis type 3. [12] - Detailed description of Gordon Syndrome or Distal Arthrogryposis Type 3.

Based on the search results, it appears that there are limited treatment options available for distal arthrogryposis type 3 (Gordon syndrome). However, one potential treatment option mentioned is capsulotomy, which helps improve passive elbow movement.

According to search result [11], patients with distal arthrogryposis type 3 have stiff joints that function improperly and are difficult to move. Capsulotomy is a surgical procedure that involves cutting the joint capsule to improve mobility.

Additionally, search result [13] mentions that acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes. However, it's essential to note that this information is not specific to distal arthrogryposis type 3 and may be related to other conditions.

It's also worth noting that the search results do not provide detailed information on the effectiveness or availability of these treatment options for distal arthrogryposis type 3. Further research would be necessary to determine the best course of treatment for this condition.

In summary, while there are some potential treatment options available, more research is needed to determine their effectiveness and availability for distal arthrogryposis type 3 (Gordon syndrome).

References: [11] Hall et al., 1982 [13] Acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes.

Distal Arthrogryposis Type 3 (Gordon Syndrome): Differential Diagnosis

Distal arthrogryposis type 3, also known as Gordon syndrome, is a rare and inherited disorder that affects movement in the joints of the upper and lower limbs. To establish a differential diagnosis for this condition, it is essential to consider other conditions with similar symptoms.

Conditions to Consider:

• Distal Arthrogryposes: Other types of distal arthrogryposis, such as type 1A, 1B, 2B, 7, and 8, should be ruled out through a thorough examination and diagnostic testing.
• Marden-Walker Syndrome: This rare genetic disorder is characterized by facial abnormalities, short stature, and joint contractures. It may present with similar symptoms to Gordon syndrome.
• Schwartz-Jampel Syndrome: Another rare genetic disorder that affects the nervous system and causes joint contractures, among other symptoms.
• Non-syndromic Arthrogryposis Multiplex Congenita (AMC): A condition characterized by congenital contractures of multiple joints, which may be similar to Gordon syndrome.

Key Diagnostic Features:

• Short stature: Individuals with Gordon syndrome often have short stature, which can help differentiate it from other forms of distal arthrogryposis.
• Cleft palate: The presence of a cleft palate is a distinctive feature of Gordon syndrome and should be considered in the differential diagnosis.

Genetic Considerations:

• PIEZO2 gene mutation: A mutation in the PIEZO2 gene has been identified as the cause of Gordon syndrome, an autosomal dominant disorder. This genetic information can aid in the differential diagnosis of this condition.

References:

• [3] DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by its characteristic short stature and cleft palate.
• [12] Since there are many disorders with arthrogryposis, differential diagnosis can be challenging; however, making a specific diagnosis is essential for proper management and counseling.
• [15] Distal arthrogryposes are a group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies, and are transmitted by autosomal dominant inheritance.