contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B (CPSFS1B) Description

Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is a rare genetic disorder characterized by contractures of proximal and distal joints [3]. This condition also involves the development of pterygia, which are abnormal skin folds that can occur in various parts of the body, including the neck, axillae, elbows, and/or knees [4].

In addition to these symptoms, CPSFS1B is also associated with vertebral fusions and scoliosis, as well as carpal and tarsal joint contractures [2]. The condition can lead to significant physical disability and impairment.

It's worth noting that the exact cause of CPSFS1B is not fully understood, but it is believed to be related to genetic mutations. Recent studies have identified variants in the MYH3 gene as a potential cause of this condition [7].

Overall, CPSFS1B is a complex and rare disorder that requires careful diagnosis and management by medical professionals.

References:

• [1] Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia ...
• [2] An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal ...
• [3] Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is a rare genetic disorder characterized by contractures of proximal and distal ...
• [4] is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, ...
• [7] by B Kamien · 2022 · Cited by 2 — Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and ...

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B (CPSFS1B) Signs and Symptoms

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) is a rare genetic disorder characterized by several distinct signs and symptoms. These include:

• Contractures of proximal and distal joints: Permanent bending or flexion of the joints in both the upper and lower limbs, resulting in limited mobility [2].
• Pterygia involving the neck, elbows, fingers, and/or knees: Web-like skin formations between the fingers or other body parts, which can be painful and limit movement [1], [11].
• Variable vertebral, carpal, and tarsal fusions: Fusing of bones in the spine, wrists, and ankles, leading to reduced mobility and flexibility [4], [5].
• Short stature: Individuals with CPSFS1B often have a shorter than average height [3].

These symptoms can vary in severity and may be accompanied by other features such as rocker-bottom or club feet, skin webbing between fingers, and limited fetal movements during pregnancy. The condition is caused by compound heterozygous mutations in the MYH3 gene on chromosome 17p13.

References:

[1] Cameron-Christie et al., (2018) - Characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions.

[2] Online Mendelian Inheritance in Man (OMIM) - Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B; OMIM

[3] B Kamien · 2022 · Cited by 2 — Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B).

[4] Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B; OMIM

[5] by B Kamien · 2022 · Cited by 2 — Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B).

[11] Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Inter- and intrafamilial variability has been observed.

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) is a rare genetic disorder that affects the musculoskeletal system. Diagnostic tests for CPSFS1B are crucial in confirming the diagnosis of this condition.

Genetic Tests

Genetic testing is a primary diagnostic tool for CPSFS1B. According to search result [2], genetic tests related to Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b include:

• Escobar syndrome: This test can help identify the MYH3 gene variants associated with CPSFS1B.
• Distal Arthrogryposis Panel: This panel includes a supplementary test that provides information on test interpretation, additional tests to consider, and other relevant details.

Clinical Features

Clinical features of CPSFS1B include contractures, pterygia (webbing between fingers or toes), and spondylocarpotarsal fusion syndrome. Search result [3] provides clinical resources with information about Contractures pterygia and spondylocarpotarsal fusion syndrome 1A and its clinical features.

Respiratory Function Tests

Respiratory function tests are also an essential part of the diagnostic process for CPSFS1B. According to search results [7] and [10], these tests can help assess respiratory function in individuals with this condition.

Other Diagnostic Tools

While not explicitly mentioned, other diagnostic tools such as imaging studies (e.g., X-rays, CT scans) may also be used to support the diagnosis of CPSFS1B. These tests can help identify skeletal abnormalities and other musculoskeletal features associated with this condition.

In summary, diagnostic tests for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B include genetic testing (Escobar syndrome and Distal Arthrogryposis Panel), clinical evaluation of clinical features, respiratory function tests, and potentially other imaging studies.

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) is a rare genetic disorder characterized by contractures affecting proximal and distal joints, vertebral fusions, scoliosis, carpal and tarsal abnormalities, among other symptoms.

Current Treatment Options:

While there are no specific treatments that can cure CPSFS1B, various management strategies can help alleviate the symptoms and improve quality of life. These may include:

• Physical therapy: To maintain or improve joint mobility and reduce contractures.
• Occupational therapy: To enhance daily functioning and independence.
• Pain management: Through medications such as analgesics, muscle relaxants, or corticosteroids to manage pain and discomfort.
• Surgical interventions: May be necessary to correct vertebral fusions, scoliosis, or other skeletal abnormalities.

Genetic Counseling:

Given the genetic nature of CPSFS1B, genetic counseling is essential for families affected by this condition. This can help identify carriers and provide guidance on reproductive options.

Multidisciplinary Care:

A team of healthcare professionals, including orthopedic surgeons, physical therapists, occupational therapists, and genetic counselors, should be involved in the care of individuals with CPSFS1B to ensure comprehensive management of their symptoms.

Please note that these treatment options are based on general information available up to 2024. The most recent search results (numbers 3 and 4) suggest that Whole-Exome Sequencing (WES) can detect pathogenic variants in MYH3, which is associated with CPSFS1B. However, the specific treatment approaches mentioned above may not be directly related to this genetic finding.

References:

• [2] Consultation with a healthcare professional for medical advice and treatment.
• [3] The patient exhibited moderate CPSFS1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected pathogenic variants in MYH3.
• [4] Similar to reference [3], the patient exhibited moderate CPSFS1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected pathogenic variants in MYH3.
• [7] Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia, and other skeletal abnormalities.
• [8] Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B).

Differential Diagnosis for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B (CPSFS1B)

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) is a rare genetic disorder characterized by contractures of proximal and distal joints [1]. When diagnosing CPSFS1B, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for CPSFS1B:

• Marden-Walker syndrome: This is a rare genetic disorder characterized by facial abnormalities, skeletal deformities, and contractures [9].
• Spondylocarpotarsal synostosis syndrome: This condition involves the fusion of joints in the spine, arms, and legs, which can lead to contractures and other musculoskeletal symptoms [10].
• Distal arthrogryposis type 2A and type 2B3: These conditions are caused by pathogenic variants in the MYH3 gene and can present with contractures, pterygia, and skeletal deformities similar to CPSFS1B [4][5].

Key Features for Differential Diagnosis

When differentiating CPSFS1B from other conditions, consider the following key features:

• Contractures: Proximal and distal joint contractures are a hallmark of CPSFS1B. However, other conditions like Marden-Walker syndrome and spondylocarpotarsal synostosis syndrome can also present with contractures.
• Pterygia: Pterygia (webbing) between fingers or toes can be seen in CPSFS1B, but it's not exclusive to this condition. Other conditions like distal arthrogryposis type 2A and type 2B3 can also present with pterygia.
• Skeletal deformities: CPSFS1B is characterized by skeletal deformities such as rocker-bottom or club feet, short stature, and joints that are bent in a fixed position. Other conditions like Marden-Walker syndrome and spondylocarpotarsal synostosis syndrome can also present with similar skeletal deformities.

References

[1] Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is a rare genetic disorder characterized by contractures of proximal and distal joints [1]. [4] Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndrome [4][5] [9] Differential diagnosis: Marden-Walker syndrome ... syndrome: Contractures, Pterygia, & Variable skeletal fusions syndrome 1B (CPSKF1B). Nosology: [9] [10] Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Raphael ... [10]