The foot in Apert syndrome.

Area of Science:

• Orthopedics
• Medical Genetics
• Developmental Biology

Background:

• Apert syndrome is a genetic disorder characterized by craniosynostosis and syndactyly.
• Foot deformities are a significant and predictable manifestation of Apert syndrome.

Purpose of the Study:

• To describe the characteristic foot deformities in Apert syndrome.
• To highlight the progressive nature of synostosis and its impact on foot structure.
• To emphasize the need for timely orthotic and surgical interventions.

Main Methods:

• Clinical observation and description of foot morphology in Apert syndrome patients.
• Analysis of radiographic and anatomical features of the developing foot.
• Correlation of specific deformities with underlying growth abnormalities.

Main Results:

• Progressive synostosis originates from an unsegmented cartilaginous mass.
• Characteristic deformities include first ray shortening, medial great toe deviation, and delta phalanx.
• Fusion of phalanges and midfoot/hindfoot in a supinated position is common.
• Fifth metatarsal prominence and callosities under the third and fifth metatarsal heads are consistently observed.

Conclusions:

• The foot deformities in Apert syndrome are predictable and follow a progressive pattern.
• Understanding these specific deformities is crucial for effective management.
• Orthotic and surgical interventions are essential for optimizing functional outcomes.