Introduction:
The term camptodactyly refers to the condition characterized by the permanent contraction of the interphalangeal joints (hinge joints of the fingers). A novel rare condition was reported in a family with camptodactyly, abnormal curvature of the spine, and fusion of the backbone. This condition was referred to as Camptodactyly Vertebral Fusion Syndrome. This article discusses the Camptodactyly vertebral fusion syndrome, its causes, clinical features, diagnosis, and treatment plan in detail.
What Is Camptodactyly Vertebral Fusion Syndrome?
Camptodactyly vertebral fusion syndrome is a rare condition affecting the vertebral bone (spine), upper limb, and one or more fingers. This condition typically causes permanent flexion contracture (inability to straighten the joint) of the interphalangeal joints, limited upper limb movement, and abnormal spine fusion. This condition is believed to be a genetic condition inherited in an autosomal dominant pattern. Currently, there are no specific treatment guidelines for this condition. Treatment involves symptomatic management of the disease.
What Are the Predisposing Factors of Camptodactyly Vertebral Fusion Syndrome?
The primary risk factor for Camptodactyly vertebral fusion syndrome is a familial history. Since it is an inherited condition, an individual with this condition has a high chance of passing down the disease in the family. There are no other specific risk factors for Camptodactyly vertebral fusion syndrome. They are generally present at the time of birth and are equally prevalent in both males and females.
How Is Camptodactyly Vertebral Fusion Syndrome Inherited?
Camptodactyly vertebral fusion syndrome is a genetic condition usually inherited in an autosomal dominant pattern. Genetic defects occur when abnormal alterations or mutations exist in the individual's DNA.
A detailed understanding of the gene affected in this condition is unknown. However, various research studies are being conducted to explore the underlying cause of it.
The autosomal inheritance pattern refers to the presence of the harmfully altered gene in the first 22 pairs of non-sex chromosomes and not present in the sex chromosomes, which are the X and Y. Generally, for a genetic condition to occur, two teams of the altered gene are received from the parents, however in dominant inheritance, a single copy of the altered gene is sufficient to inherit the condition.
What Are the Clinical Manifestations of Camptodactyly Vertebral Fusion Syndrome?
The clinical manifestations of the condition mainly depend on the severity of the disease and vary among individuals. The common clinical features of Camptodactyly vertebral fusion syndrome are mentioned below.
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Permanently flexed (bent fingers) are seen in one or more fingers in one or both hands. Severe cases may affect the entire functioning of the hands.
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Restricted movements of the upper limbs.
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Inability to straighten the elbow joint.
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Due to abnormal fusion of the vertebral bones, most patients may develop a condition called scoliosis. Scoliosis means an abnormal sideways curvature of the spine. This condition may result in uneven shoulder level, unusually high hips on one or both sides, body leaning towards one side, uneven waist, breathing difficulties, protrusion of the ribcage, and leg length discrepancies.
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Some patients may develop a congenital torticollis condition that causes neck muscle contractions, resulting in postural neck deformities. Torticollis may result in neck stiffness in the affected child and abnormal head tilting towards one side. There are limitations in neck movements, swollen neck muscles, and uncommon shoulder blade elevation. A palpable swelling may be seen in the neck region.
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Neck pain and headache.
What Are the Complications of Camptodactyly Vertebral Fusion Syndrome?
The possible complications of camptodactyly Vertebral Fusion Syndrome include:
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Over time, the abnormal fusion of the vertebral bones may damage the head and neck nerves.
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Patients with scoliosis may develop spinal stenosis (spinal canal narrowing).
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Heart defects.
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Abnormalities of the ribcage in scoliosis patients may cause damage to the heart and result in heart defects.
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Mental retardation, depression, and psychological stress.
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Limitation in movements of the neck, back, head, and extremities.
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Abnormalities of the ribcage result in lung infections.
How Is Camptodactyly Vertebral Fusion Syndrome Diagnosed?
Camptodactyly vertebral fusion syndrome is effectively diagnosed by proper physical examination of the affected patient.
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The doctor performs a detailed medical history taking and a thorough physical examination of the patient.
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The doctor will assess the familial history of the patient.
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The doctor may use various tools such as an inclinometer, goniometer, or Scoliometer to assess the range of motion in the neck and back and to evaluate the degree of curvature in the spine.
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A practical investigation method is performed through a radiographical examination of the patient in the hands, neck, and back.
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The radiographic examination of the affected hands may reveal flexed joints, and in severe cases, the phalangeal head may be seen articulating with the distal phalanx.
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The radiographic examination of the back reveals a degree of scoliosis of more than 10 degrees.
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Other radiographic investigations include MRI (Magnetic Resonance Imaging) and CT scan (Computed Tomography).
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The doctor may also perform laboratory tests and biopsy studies if required.
How Is Camptodactyly Vertebral Fusion Syndrome Treated?
Since Camptodactyly Vertebral Fusion Syndrome is a genetic condition, there is no cure. However, symptomatic management and supportive care are given to these patients.
1. Camptodactyly:
For camptodactyly, the non-surgical treatment options include stretching the flexed fingers and splinting. The severe cases require surgical interventions that have the release of the flexor digitorum superficialis muscle.
2. Scoliosis:
Mild cases of scoliosis do not require any treatment and are kept under observation. Children at an actively growing age are recommended for physiotherapy and bracing. Patients with severe scoliosis require surgical interventions.
3. Torticollis:
Patients with torticollis are referred to physical therapy to improve the range of motion in their necks. The affected child is provided with a specially designed collar to support the affected side of the neck. Surgical interventions are performed in these patients when there is no improvement, even after one year of conservative management.
Conclusion:
Camptodactyly Vertebral Fusion Syndrome is a rare condition that clinically presents with permanent flexion of one or more fingers, limited range of motion in the upper limb, and abnormal fusion of the vertebral bone. It is believed to be inherited in an autosomal dominant pattern. Patients with familial history of the condition are referred for genetic counseling to assess the risk of passing down the condition to their children before planning for pregnancy.
