Handigodu syndrome

Overview

Handigodu syndrome is a rare, non-inflammatory, inherited skeletal disorder classified under the group of endemic familial osteoarthropathies. It primarily affects the joints, especially in the hips and knees, and leads to early-onset degenerative arthritis. The syndrome was first identified in the village of Handigodu in Karnataka, India, and has since been observed in other isolated populations, particularly in parts of South India and Sri Lanka. It is characterized by progressive joint deformities, restricted mobility, and short stature, often manifesting during childhood or adolescence.

Causes

Handigodu syndrome is caused by a genetic mutation and is inherited in an autosomal dominant manner. This means a single copy of the mutated gene from an affected parent is enough to cause the disorder. Although the exact gene responsible for the condition has not been definitively identified, it is believed to involve abnormalities in cartilage and bone development. The syndrome tends to appear in isolated communities with high rates of consanguinity (marriage among close relatives), which may increase its prevalence.

Symptoms

Symptoms of Handigodu syndrome usually begin in early childhood and progress over time. Common clinical features include:

• Joint pain and stiffness: Primarily affecting the hips and knees, often leading to difficulty walking.

• Progressive joint deformities: Including hip dislocation, flexion contractures, and genu valgum (knock knees).

• Short stature: Affected individuals often have reduced height due to skeletal abnormalities.

• Limited range of motion: As the disease progresses, joint mobility becomes increasingly restricted.

• No signs of systemic inflammation: Unlike autoimmune arthritis, Handigodu syndrome does not involve joint redness, swelling, or systemic symptoms.

Diagnosis

Diagnosis of Handigodu syndrome is primarily clinical and based on family history, physical examination, and radiological findings. Diagnostic steps include:

• Clinical examination: Identifying characteristic joint deformities and mobility limitations, especially in families with multiple affected members.

• X-rays: Reveal joint space narrowing, flattening of femoral heads, and deformities in long bones, without signs of inflammation.

• Family history: Inheritance patterns in affected communities can support the diagnosis.

• Genetic testing: May be used in the future to confirm the mutation once the specific gene is identified.

Treatment

There is no cure for Handigodu syndrome, and treatment is aimed at managing symptoms and improving quality of life. Management strategies include:

• Physical therapy: To maintain mobility and prevent contractures.

• Pain management: Use of analgesics and non-steroidal anti-inflammatory drugs (NSAIDs), though inflammation is minimal.

• Orthopedic interventions: Bracing or corrective surgeries to improve joint alignment and function.

• Assistive devices: Such as walkers or canes to support ambulation in advanced stages.

• Genetic counseling: For affected families to understand inheritance risks and consider preventive strategies.

Prognosis

The prognosis of Handigodu syndrome depends on the severity of joint involvement. While the disorder causes significant physical disability and mobility limitations, it does not affect life expectancy. With proper rehabilitation and supportive care, individuals can maintain a reasonable degree of independence. Early intervention and community awareness can help reduce complications and improve functional outcomes, especially in regions where the syndrome is endemic.