Foot anomalies and proximal symphalangism

Area of Science:

• Orthopedics
• Medical Genetics
• Developmental Biology

Background:

• Symphalangism, characterized by the absence of proximal interphalangeal joints, is a rare congenital anomaly.
• Talipes, or clubfoot, is a common birth defect affecting foot and ankle alignment.
• Understanding the genetic and developmental basis of these conditions is crucial for effective management.

Observation:

• A 2-week-old female infant presented with bilateral proximal symphalangism of the little and ring fingers and atypical talipes.
• The infant's mother and maternal grandmother exhibited similar symptoms, suggesting a hereditary pattern.
• The affected individuals had no other apparent musculoskeletal abnormalities, highlighting the specific nature of this syndrome.

Findings:

• The infant's talipes deformity was characterized by marked equinus and varus, differing from typical presentations.
• Symphalangism was observed bilaterally in the little and ring fingers, consistent with familial inheritance.
• The condition was managed using a modified Kite's procedure due to the presence of coalitions.

Implications:

• This case highlights the phenotypic variability within symphalangism-coalition syndromes.
• Early diagnosis and tailored orthopedic interventions are essential for managing complex foot deformities.
• Further research into the genetic underpinnings of this syndrome may reveal associations with other conditions, such as conductive deafness.