How to Manage Congenital Metatarsal Shortening Syndrome?

Congenital brachymetatarsia is a genetic disease with autosomal dominant inheritance, also known as brachydactyly. It does not refer to the shortness of fingers or toes, but rather to the shortness or even disappearance of metatarsal bones. The disease is more prevalent in women, and unilateral cases are more common than bilateral cases, with little difference between left and right sides. Mild cases of congenital brachymetatarsia may not require treatment, while severe cases may require surgical intervention.

Congenital brachymetatarsia is an autosomal dominant genetic disease also known as "brachydactyly". It does not actually refer to the shortness of fingers or toes, but rather to the shortness or even disappearance of metatarsal bones. It is most commonly seen in the fourth metatarsal, with occasional cases of first metatarsal brachymetatarsia. Affected individuals walk in a normal posture, but the fourth metatarsal is prone to strain. Typically, the fingers develop normally during childhood, but after age 7-8, the fourth metatarsal prematurely closes and stops growing, while other metatarsals continue to develop normally, resulting in developmental malformations. The disease is caused by abnormal development of the metatarsals and is primarily genetic, rather than acquired. Surgical intervention may be necessary in severe cases. The fingers typically develop normally during childhood, but after age 7-8, the fourth metatarsal prematurely closes and stops growing, while other metatarsals continue to develop normally, resulting in developmental malformations. The disease is caused by abnormal development of the metatarsals and is primarily genetic, rather than acquired due to factors such as shoe pressure or trauma. Inheritance is the main cause, and the condition is commonly seen in both mothers and their children. It is more prevalent in women and unilateral cases are more common than bilateral cases, with little difference between left and right sides.

Although congenital brachymetatarsia is not directly fatal, it can cause significant physical and psychological impact and harm. This congenital malformation can affect the completion of foot movements such as walking, running, and jumping, and often leads to foot fractures, secondary malformations, and uneven distribution of stress on the plantar surface. Patients with short fourth metatarsals often have collapsed forefoot transverse arches and plantar callosities, resulting in foot pain. Short first metatarsals can shift the weight-bearing point of the foot to the second metatarsal head, but the second metatarsal is delicate and prone to fractures. Sometimes, local callosities may also form on the second metatarsal head. Due to the deformity of the fourth toe, it cannot bear weight and may be uplifted, leading to easy wear and tear of shoes and socks.