Eiken syndrome

Eiken syndrome, also known as EKNS, is a rare autosomal recessive skeletal dysplasia that affects the development of bones.

Characteristics of Eiken Syndrome

• Delayed ossification of bones [1]
• Epiphyseal dysplasia, which refers to abnormalities in the growth plates of bones [2]
• Bone remodeling, which can lead to changes in bone shape and structure [3]

Symptoms and Features

• Short stature [5]
• Long limbs
• Joint dislocations

Genetic Basis

• Eiken syndrome is caused by mutations in the gene for parathyroid hormone receptor type 1 (PTH1R) [8][9]

Overall, Eiken syndrome is a rare genetic disorder that affects bone development and can lead to various symptoms and features.

Eiken syndrome, also known as bone modeling defect of hands, is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia. The signs and symptoms of this condition can vary widely, but common skeletal features include:

• Long, thin limbs: This is one of the most distinctive features of Eiken syndrome, where individuals have abnormally long limbs compared to their body size [1].
• Flexible joints: People with Eiken syndrome often have flexible joints that are prone to dislocations and subluxations [2].
• Curved spine: A curved spine, also known as scoliosis, is another common feature of this condition [3].

In addition to these skeletal features, individuals with Eiken syndrome may also experience:

• Cardiovascular problems: Some people with Eiken syndrome have been found to have cardiac conduction defects, such as sick sinus and bundle-branch block [4].
• Brachydactyly: This condition is characterized by short fingers and toes, similar to brachydactyly type C of the hands [5].

It's worth noting that symptoms can vary widely among individuals with Eiken syndrome, and not everyone will exhibit all of these features. However, these are some of the most common signs and symptoms associated with this rare condition.

References: [1] Context 8 [2] Context 6 [3] Context 8 [4] Context 7 [5] Context 7

Diagnostic Tests for Eiken Syndrome

Eiken syndrome, also known as EKNS, is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Diagnostic tests are essential to confirm the diagnosis of this condition.

• Clinical Evaluation: A thorough clinical evaluation is necessary to identify the characteristic features of Eiken syndrome, such as delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities [3][13].
• Radiographic Imaging: Radiographic imaging studies, including X-rays and CT scans, can help confirm the diagnosis by showing the characteristic skeletal abnormalities associated with Eiken syndrome [6].
• Genetic Testing: Genetic testing is also essential to identify mutations in the PTH1R gene, which is responsible for Eiken syndrome. This test can be performed on a blood sample or other tissue [7][12].
• NGS Test: A Next-Generation Sequencing (NGS) test is available for Eiken syndrome, which can help identify genetic mutations associated with this condition [4][14].
• Comprehensive Test: A comprehensive test is also available for Eiken syndrome, which includes a panel of genes associated with skeletal disorders. This test can help identify the underlying cause of the condition [15].

Diagnostic Teams

A diagnostic team for Eiken syndrome may include:

• Primary Care Physician (PCP)
• Geneticist
• Orthopedic Specialist
• Radiologist

These healthcare professionals work together to provide a comprehensive diagnosis and treatment plan for individuals with Eiken syndrome.

References:

[1] Context result 3 [2] Context result 6 [3] Context result 13 [4] Context result 14 [5] Context result 15

Eiken syndrome, also known as Eiken skeletal dysplasia, is a rare genetic disorder characterized by delayed bone mineralization and other skeletal abnormalities. While there is no specific medical treatment for Eiken syndrome, researchers have explored alternative therapies to manage its symptoms.

According to search results [6], one such alternative therapy involves the repositioned use of meclizine, a FDA-approved drug typically used to treat motion sickness. This approach has been investigated as an alternative to conventional CNP-based therapy [2].

However, it's essential to note that Eiken syndrome is a rare and complex condition, and treatment options may vary depending on individual cases. In some instances, conservative management of Ollier disease (a related condition) may be employed, although there is no specific medical treatment for enchondromatosis [3].

It's also worth mentioning that

Eiken syndrome, also known as EKNS, is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling.

The differential diagnosis for Eiken syndrome includes:

• Brachydactyly type E: a rare genetic disorder that affects the development of the hands and feet [1].
• Pseudohypoparathyroidism 1a or pseudopseudohypoparathyroidism: conditions characterized by short stature, delayed ossification, and other skeletal abnormalities [2][3].
• Acrodysplasia with ossification abnormalities, short stature, and fibular dysplasia (MIM 603740): a rare genetic disorder that affects the development of bones and cartilage [4].

It's worth noting that Eiken syndrome is clinically distinctive from other skeletal dysplasias such as Jansen chondrodysplasia, Blomstrand chondrodysplasia, and enchondromatosis [5]. Additionally, differential diagnoses for hypoparathyroidism, which can be associated with Eiken syndrome, include both congenital and acquired causes [10].

References: [1] Context 1 [2] Context 2 [3] Context 4 [4] Context 2 [5] Context 5 [10] Context 10