Camptodactyly
A condition causing permanently bent fingers or toes.
Camptodactyly is a medical condition characterized by a permanent bending of one or more digits (fingers or toes), involving a fixed flexion deformity of the proximal interphalangeal joints. It is notable for its incomplete genetic expressivity, meaning that individuals carrying the genetic trait may exhibit the condition in both hands, one hand, or neither.
Quick Facts
- Pronounce
- kamp-toh-dak-tih-lee
- Field
- Medical genetics
- Complications
- People with severe camptodactyly may have difficulty holding objects
- Onset
- There are congenital forms, adolescent-onset forms and acquired forms
- Duration
- Life-long
- Treatment
- Splinting, surgery, etc.
- Frequency
- 1% of the world population
Facts from the source article.
Lore & Background
Camptodactyly can be caused by a genetic disorder, inherited as an autosomal dominant trait with incomplete expressivity. A linkage scan proposed that the chromosomal locus is 3q11.2-q13.12. The specific cause remains unknown, but deficiencies in the lumbrical muscle controlling finger flexion, as well as abnormalities of the flexor and extensor tendons, are implicated. A number of congenital syndromes may also cause camptodactyly, including Jacobsen syndrome, Beals syndrome, Blau syndrome, and many others.
Reader's Guide
Camptodactyly is significant as a congenital hand deformity that can affect function and appearance. Its inheritance pattern—autosomal dominant with incomplete expressivity—means that genetic counseling is complex, as the condition may skip generations or appear asymmetrically. The condition is often sporadic, but familial cases follow this dominant pattern. Treatment is conservative for contractures under 30 degrees, involving splinting and occupational therapy; surgery is a last resort due to unsatisfactory outcomes. The condition is also associated with numerous syndromes, making it a key diagnostic clue in clinical genetics. Its etymology from Greek roots ('bent finger') reflects its defining feature.
Did You Know?
- It is an autosomal dominant trait with incomplete genetic expressivity.
- A linkage scan proposed the chromosomal locus 3q11.2-q13.12 for camptodactyly.
- The name comes from ancient Greek words meaning 'bent' and 'finger'.
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