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zygodactyly 1

Description

Zygodactyly 1 Definition

Zygodactyly 1, also known as syndactyly type I, is a rare genetic condition that affects the limbs. It is characterized by webbing or fusion between the third and fourth fingers.

  • Key Features:
    • Webbing or fusion between the third and fourth fingers
    • Autosomal dominant inheritance pattern (meaning one copy of the mutated gene is enough to cause the condition)
    • Can occur in isolation or as part of a larger syndrome

Prevalence and Impact

While specific data on zygodactyly 1 prevalence is not readily available, it is considered a rare condition. The impact of this condition can vary depending on individual circumstances, but it may lead to difficulties with hand function and dexterity.

  • References:
    • [4] - This search result provides the definition and key features of zygodactyly 1.
    • [5] - Although not directly related to zygodactyly 1, this search result mentions syndactyly type I as a synonym for zygodactyly 1.

Additional Characteristics

  • Webbing or fusion between the third and fourth fingers
  • Autosomal dominant inheritance pattern (meaning one copy of the mutated gene is enough to cause the condition)
  • Can occur in isolation or as part of a larger syndrome

Signs and Symptoms

What are the signs and symptoms of Zygodactyly 1?

Zygodactyly 1, also known as Syndactyly type 1 (SD1), is a distal limb malformation characterized by complete or partial webbing. The signs and symptoms of this condition can vary depending on the severity and extent of the webbing.

  • Complete or partial webbing: The most common sign of Zygodactyly 1 is the presence of webbing between two or more fingers or toes.
  • Limited motion: Children with Zygodactyly 1 may experience limited motion in the affected limb, making it difficult to move the fingers or toes freely.
  • Abnormalities in hand and foot structure: In some cases, children with Zygodactyly 1 may have abnormalities in the structure of their hands and feet, such as extra bones or abnormal tendon and/or ligament development.

According to [6], SD1/Zygodactyly-2q34-q36 is a subtype of syndactyly characterized by complete or partial webbing between two or more fingers or toes. This condition can be associated with varying degrees of polydactyly, which is the presence of extra fingers or toes.

It's worth noting that the signs and symptoms of Zygodactyly 1 can differ depending on the individual case, and a

Additional Symptoms

  • Complete or partial webbing
  • Limited motion
  • Abnormalities in hand and foot structure

Diagnostic Tests

Diagnostic Tests for Zygodactyly Type 1

Zygodactyly type 1, also known as syndactyly type I (185900), is an autosomal dominant limb malformation characterized by complete or partial webbing between the third and fourth toes. Diagnostic tests are not always necessary to diagnose this condition, but they can be used to confirm the diagnosis and assess the severity of the malformation.

  • Physical Examination: A physical examination by a healthcare provider is usually sufficient to diagnose zygodactyly type 1. The healthcare provider will examine the feet and toes to look for webbing or other abnormalities.
  • X-rays: X-rays may be taken to assess the alignment and structure of the bones in the foot and toe. This can help determine if there are any underlying bone deformities that need to be addressed.
  • Imaging Studies: Other imaging studies, such as ultrasound or MRI, may also be used to evaluate the extent of the malformation.

Diagnostic Tests for Zygodactyly Type 1

According to search result [3], diagnostic tests for zygodactyly type 1 include:

  • Expert centre(s)
  • Networks of expert centre
  • Diagnostic tests

These tests can help confirm the diagnosis and provide information on the severity of the malformation.

References:

[2] - This condition is characterized by complete or partial webbing between the third and fourth toes. [5] - Syndactyly doesn't usually need any tests to diagnose it, but x-rays may be taken to assess the alignment and structure of the bones in the foot and toe. [9] - Your baby's doctor may use x-rays to assess the severity of the malformation.

Treatment

Differential Diagnosis

Differential Diagnosis of Zygodactyly Type 1

Zygodactyly type 1, also known as syndactyly type A1, is a rare congenital condition characterized by the fusion of adjacent toes. The differential diagnosis for zygodactyly type 1 involves considering other conditions that may present with similar symptoms.

Conditions to Consider:

  • Syndactyly Type IV: This condition also presents with webbing between the second and third toes, but it is often associated with polydactyly (extra fingers or toes) [8].
  • Apert Syndrome: A rare genetic disorder that affects bone growth and development, leading to fusion of fingers and toes. However, Apert syndrome typically involves more extensive skeletal abnormalities than zygodactyly type 1 [8].
  • Radial Aplasia: A condition characterized by the absence or underdevelopment of the radius bone in the forearm, which may be associated with zygodactyly type 1 in some cases [5].

Key Features to Distinguish Zygodactyly Type 1:

  • Bilateral cutaneous webbing of second and third toes without hand involvement
  • Rarely, other toes are also affected
  • No polydactyly or extra fingers involved

References:

[8] - Besides Apert syndrome, the differential diagnosis of complete syndactyly with a cup-shaped palm includes syndactyly type IV, but polydactyly occurs in that condition. [5] - A 10-month-old boy with an unclassified form of radial aplasia with absent thumbs, tibia hypo/-aplasia, and partial absence of toes.

Note: The information provided is based on the search results and may not be exhaustive. If you have any further questions or would like more information, please let me know!

Additional Information

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