Q72.3

Clinical Causes: Genetic factors or mutations that affect limb development during fetal growth Environmental influences such as exposure to teratogens (substances that can disturb fetal development) during pregnancy Chromosomal abnormalities or syndromes that involve limb anomalies Unknown causes in some cases, where no specific reason can be identified

Key Symptoms: Complete absence of one or both feet at birth Missing toes on the affected foot or feet Differences in limb length or structure if partial abnormalities are present Possible associated anomalies such as limb deformities or other congenital defects Normal functionality depending on the extent of the absence and any reconstructive interventions

Diagnosis Path: The diagnosis of congenital absence of foot and toe(s) is primarily made through physical examination of the newborn. Imaging tests such as ultrasound during pregnancy can sometimes identify limb malformations before birth. Postnatal assessment includes detailed physical evaluation and imaging studies like X-rays to understand the extent of the absence and plan for potential treatment or intervention. Genetic counseling may also be recommended to assess for associated conditions or syndromes.

Treatment Protocols: Management strategies are tailored based on individual needs and may include: - Surgical procedures to improve functionality and appearance - Prosthetic devices to aid mobility and independence - Physical and occupational therapy to enhance strength, flexibility, and adaptation - Rehabilitative support and customized assistive devices - Ongoing medical monitoring to address any related or secondary issues The goal of treatment is to maximize mobility, functional use of the limb, and overall quality of life. Multidisciplinary care involving orthopedic surgeons, prosthetists, therapists, and genetic counselors can support optimal outcomes.