Familial clubfoot due to 17q23.1q23.2 microduplication

Familial clubfoot due to 17q23.1q23.2 microduplication is a rare genetic condition in which babies are born with one or both feet turned inward and downward, a condition known as clubfoot (also called talipes equinovarus). This specific form of clubfoot is caused by a small extra copy (microduplication) of genetic material on chromosome 17, in the region labeled 17q23.1 to 17q23.2. Because this duplication can be passed down through families, it is called "familial," meaning it tends to run in families. The condition is present at birth and is typically noticed right away because of the abnormal position of the foot or feet. The duplicated region on chromosome 17 contains the TBX4 gene, which plays an important role in limb development, particularly the lower limbs. When there is extra genetic material involving this gene, it can disrupt normal foot and leg development before birth. Some individuals with this microduplication may also have other features, such as hip problems, short stature, or mild differences in leg length, though clubfoot is the most prominent finding. Treatment for clubfoot caused by this microduplication follows the same general approach used for other forms of clubfoot. The Ponseti method, which involves gentle stretching, serial casting, and sometimes a minor procedure to lengthen the Achilles tendon, is the standard first-line treatment. After correction, children typically wear a foot brace for several years to prevent the clubfoot from returning. In more resistant cases, surgery may be needed. With proper treatment, most children achieve good foot function and can walk, run, and participate in normal activities.

Bring these to your next appointment

• Q1.Is my child's clubfoot caused by the 17q23.1q23.2 microduplication, and should we do genetic testing to confirm?,What is the recommended treatment plan, and will the Ponseti method work for my child?,How long will my child need to wear the foot brace, and what happens if we miss bracing time?,What are the chances that the clubfoot will come back after treatment?,Should other family members be tested for this genetic duplication?,Are there any other health issues we should watch for related to this chromosome duplication?,What is the long-term outlook for my child's ability to walk, run, and play sports?

Common questions about Familial clubfoot due to 17q23.1q23.2 microduplication

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Other rare diseases commonly researched alongside Familial clubfoot due to 17q23.1q23.2 microduplication.

• 17q23.1q23.2 microdeletion syndrome→