How Is Macrodactyly Diagnosed?

Macrodactyly is usually visible at birth, unless it is the progressive type, which might not be detected until later in early childhood, when fingers or toes start getting larger. To confirm the type of macrodactyly and determine which tissues are affected, your child might have tests such as X-rays or MRI.

What does macrodactyly look like?

The main symptom of macrodactyly is the appearance of one or more abnormally large fingers or toes. The larger digits may grow at the same rate as other non-affected fingers/toes, or have much faster growth. Other symptoms of macrodactyly may include: Abnormal growth in the affected hand or foot.

How common is macrodactyly?

Macrodactyly is a rare, nonhereditary and congenital deformity, accounting for about 1% of upper extremity congenital anomalies and affecting approximately 1 in 100,000 live births. Macrodactyly can appear alone (ie, the isolated form) or as part of a congenital deformity syndrome (ie, the syndromic form).