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Macrodactyly of the Foot in a Newborn: A Case Report and Four-Year Follow-Up
Maria Bandeira Duarte1, Marta Valerio1, Ana Filipa Vilarinho1
1Pediatrics Department, Hospital de Santarém, Unidade Local de Saúde da Lezíria (ULS Lezíria), Santarém, PRT.
Insights
Macrodactyly, a rare congenital overgrowth of digits, requires early recognition and multidisciplinary management. Despite challenges, the prognosis is generally favorable with appropriate care.
Area of Science:
- Pediatric Orthopedics
- Medical Genetics
Background:
- Macrodactyly is a rare congenital condition causing digit overgrowth.
- It presents a significant psychological burden, necessitating early pediatrician involvement.
- Prenatal diagnosis via ultrasound is possible.
Introduction:
Macrodactyly is a rare congenital malformation characterized by the overgrowth of all mesenchymal elements in one or more digits of the hands or feet. Although diagnosis typically occurs at birth, prenatal detection via ultrasound has been reported. The condition imposes a significant psychological burden on children and their families. Pediatricians are often the first clinicians to inform and counsel anxious parents; accurate recognition of this malformation and clear communication regarding the multidisciplinary approach, clinical evolution, and overall prognosis are therefore essential.
Case Presentation:
A full-term female neonate presented at birth with an isolated enlargement of the second and third digits of the left foot. There were no other abnormalities. A family history of a structural hand anomaly in the maternal grandmother was noted. After 4.5 years of follow-up, the asymmetry progressively accentuated, consistent with the progressive type of macrodactyly.
Conclusions:
Macrodactyly requires early recognition and long-term multidisciplinary management involving pediatricians, orthopedists, geneticists, physiatrists, and surgeons. Surgical intervention is typically inevitable, and maintaining realistic expectations is crucial. Despite the challenges, the overall prognosis is favorable, with no adverse effects on systemic growth or neurodevelopment.