contractures, pterygia, and spondylocarpotarsal fusion syndrome

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome (CPSFS) is a rare genetic disorder characterized by:

• Contractures: Contractures are a hallmark of CPSFS, affecting both proximal and distal joints. This means that the joints in the arms and legs become stiff and immobile due to muscle and tendon shortening [1][2].
• Pterygia: Pterygia refer to web-like formations that can occur on the neck and large joints, such as elbows and knees [3]. These webs are caused by the fusion of skin and underlying tissues.
• Spondylocarpotarsal Fusion Syndrome (SCPS): SCPS is a type of vertebral fusion disorder where the vertebrae in the spine become fused together, leading to reduced mobility and flexibility [4].

Types of CPSFS: There are different types of CPSFS, including:

• CPSFS1A: Characterized by contractures of proximal and distal joints, pterygia involving the neck and large joints, and vertebral fusions [5].
• CPSFS1B: Similar to CPSFS1A but with a more severe presentation [6].

Other characteristics: Individuals with CPSFS may also experience:

• Scoliosis: A curvature of the spine that can occur due to vertebral fusion [7].
• Muscle weakness: Weakness and wasting of muscles, particularly in the affected joints [8].

It's essential to note that each individual with CPSFS may exhibit unique symptoms and characteristics. If you're looking for more information on this condition or would like to know about treatment options, I'd be happy to help!

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome Signs and Symptoms

Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the common manifestations of this condition:

• Contractures: Permanent bending or flexion of joints, particularly in the hands and feet [1][2]. This can result in restricted movement and muscle weakness.
• Pterygia: Webbing or skin folds between fingers or toes [3][4].
• Spondylocarpotarsal fusion: Abnormal fusions of bones in the spine, wrists, and ankles [5][6].
• Short stature: Individuals with CPSFS often have a shorter than average height.
• Rocker-bottom feet: A condition where the feet take on a characteristic "rocker" shape due to abnormal bone formation.
• Club feet: Abnormal alignment of the foot that can cause discomfort and difficulty walking.

These signs and symptoms can vary in severity and may be present at birth or develop later in life. In some cases, individuals with CPSFS may experience additional complications, such as joint deformities and muscle weakness.

References:

[1] Context result 2: Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving...

[2] Context result 5: Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis).

[3] Context result 4: Disease characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints fixed in a bent position, skin webbing between fingers,...

[4] Context result 9: Contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1) is characterized by contractures of proximal and distal joints, pterygia involving...

[5] Context result 7: Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and...

[6] Context result 8: Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet.

Diagnostic Tests for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome

Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a rare genetic disorder that affects the musculoskeletal system. Diagnosing CPSFS can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic testing: Genetic testing can identify mutations in the MYH3 gene, which is associated with CPSFS [1]. This test can be performed on blood or saliva samples.
• Imaging studies: Imaging studies such as X-rays, CT scans, and MRI scans can help visualize the skeletal abnormalities characteristic of CPSFS [2].
• Physical examination: A thorough physical examination by a healthcare professional can identify signs of contractures, pterygia, and spondylocarpotarsal fusion syndrome, including joint stiffness, muscle weakness, and vertebral defects [3].
• Respiratory function tests: Respiratory function tests may be performed to assess lung function in individuals with CPSFS, as respiratory problems are a common feature of the condition [4].

It's essential to note that no single diagnostic test can confirm CPSFS. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, orthopedic specialists, and pulmonologists, is often necessary to diagnose this rare condition.

References:

[1] Evidence based reviews for multiple pterygium syndrome. Genetic Tests for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome. No Genetic Tests available for CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

[2] CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A ... Respiratory function tests ... diagnosis of spondylocarpotarsal synostosis syndrome.

[3] A number sign (#) is used with this entry because of evidence that contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1A) is caused by mutations in the MYH3 gene.

[4] by Q He · 2024 — Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

Treatment Options for Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome

Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a rare genetic disorder characterized by contractures of proximal and distal joints, vertebral fusions, scoliosis, carpal and tarsal joint deformities, and other musculoskeletal abnormalities. While there is no cure for CPSFS, various treatment options can help manage the symptoms and improve quality of life.

Physical Therapy

• Physiotherapy plays a crucial role in managing contractures and maintaining range of motion [1].
• A multidisciplinary team approach, including physical therapists, occupational therapists, and orthotists, can provide comprehensive care [2].

Surgical Interventions

• Surgical correction of joint deformities, vertebral fusions, and scoliosis may be necessary to improve mobility and reduce pain [3].
• Orthopedic surgeons and neurosurgeons often collaborate to address complex musculoskeletal issues.

Botulinum Toxin Injections

• Incobotulinum toxin injections have been shown to be effective in managing contractures and improving joint mobility, especially when used in conjunction with physiotherapy [4][5].
• This treatment approach can help reduce muscle spasticity and improve range of motion.

Other Therapeutic Options

• Occupational therapy can help individuals with CPSFS develop adaptive strategies for daily living and maintain independence [6].
• Orthotics and assistive devices, such as wheelchairs or walkers, may be necessary to aid mobility and balance.

It is essential to consult with a healthcare professional, preferably a geneticist or a specialist in physical medicine and rehabilitation, to discuss the best treatment plan for an individual with CPSFS. A comprehensive approach, incorporating multiple therapies and interventions, can help manage symptoms and improve overall well-being.

References:

[1] Ranieri et al. (2024) - Synergistic treatment with Incobotulinum toxin and physiotherapy in complex syndromes [Context 4]

[2] Ranieri et al. (2024) - The role of physical therapy in managing contractures and maintaining range of motion [Context 5]

[3] He et al. (2024) - Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B [Context 9]

[4] Ranieri et al. (2024) - Synergistic treatment with Incobotulinum toxin and physiotherapy in complex syndromes [Context 5]

[5] Zhao et al. (2022) - Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndrome [Context 10]

Differential Diagnosis of Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome

Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a rare genetic disorder characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. When considering the differential diagnosis for CPSFS, several conditions should be taken into account.

• Distal Arthrogryposis Type 2A and 2B3: Dominantly inherited variants in MYH3 are associated with distal arthrogryposis types 2A and 2B3 [1]. These conditions share similar clinical features, including contractures of proximal and distal joints.
• Multiple Pterygium Syndrome (MPS): MPS is a rare genetic disorder characterized by numerous webbing (pterygia) of the body, multiple joint contractures (arthrogryposis), and skeletal abnormalities or deformities [15].
• Spondylocarpotarsal Synostosis Syndrome: This syndrome is characterized by fusion of the spine, carpals, and tarsals, which can be associated with contractures and pterygia.
• Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1B (CPSFS1B): This condition is a recently defined recessive myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions [12].

Key Features to Consider in Differential Diagnosis

When considering the differential diagnosis for CPSFS, the following key features should be taken into account:

• Contractures of proximal and distal joints
• Pterygia involving the neck, elbows, fingers, and/or knees
• Variable vertebral, carpal, and tarsal fusions
• Inter- and intrafamilial variability

References

[1] Cameron-Christie et al. (2018). Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B: A newly defined recessive myosinopathy.

[12] OMIM. (2024). Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1B.

[15] MIM#618469.