General Considerations

• Rare congenital disease
• Enlargement of bone and soft tissues secondary to hamartomatous disease
• Metacarpal or metatarsal is usually spared
• Hand involvement more common than foot
• Distribution in hand tends to be along course of median nerve
• May or may not be associated with other diseases

Clinical Findings

• Gradually enlarging, sometimes painful, digit usually presenting at birth
• Thickened skin and hypertrophy of nails

Imaging Findings

• Enlarged phalanges of the hand or foot sparing the metacarpal or metatarsal
• May have associated syndactyly or polydactyly
• Second digit affected most commonly (in hands or feet)
  • Next most common is third digit

Associated Diseases/Differential Diagnosis

• Hemihypertrophy from Wilms, adrenal tumors and hepatoblastoma
• Neurofibromatosis
• Macromelia
• Proteus syndrome
• AVM
• Lymphangioma
• Macrodystrophia lipomatosa progressiva
• Disproportionate overgrowth of adipose tissue in digit

Treatment

• Surgical debulking
• Digit shortening procedures

Prognosis

• Growth patterns include
  • Static
• Grows as long as hand grows
• Grows faster than remainder of hand

 

Macrodactyly. There is enlargement of the bones and soft tissues of the phalanges of middle finger (arrow). The metacarpal is spared. No subcutaneous nodules are identified and the other digits are normal in size.
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Wheeless online Textbook of Orthopedics

Macrodactyly. Kotwal, P and Farooque, M. Bone Joint Surg [Br] 1998;80-B:651-3