Symbrachydactyly
| Symbrachydactyly | |
|---|---|
 | |
| Right hand symbrachydactyly in Poland syndrome. | |
| Specialty | Medical genetics |
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot.[1] In many cases, bones will be missing from the fingers and some fingers or toes may be missing altogether. The ends of the hand may have "nubbins"—small stumps of soft tissue where the finger would have developed, which may have tiny residual nails.[citation needed]
No clear statistics are available regarding the incidence rate for symbrachydactyly. This may be due, in part, to the wide variety of definitions and classifications that are used in diagnosis.[2]
In most cases, children born with symbrachydactyly are able to adapt to their physical limitations and experience a fully functional life with no treatment. Most children with this condition can use their hands well enough to do all the usual things children do.[3] Possible treatment includes surgery or a routine of regularly stretching the fingers.
Cause
The cause of symbrachydactyly is unknown. One possible cause might be an interruption of the blood supply to the developing arm at four to six weeks of pregnancy. There is no link to anything the mother did or did not do during pregnancy. There is also no increased risk of having another child with the same condition or that the child will pass the condition on to his or her children.[4]
Treatment
Most children with symbrachydactyly have excellent function in daily activities. Due to the length of their arm, they do not qualify for most artificial limbs. However, some adaptive prosthetics and equipment for sports and leisure activities may be helpful when the child is older. Children who demonstrate some functional movement in their remaining fingers and within the palm are evaluated for possible surgery such as toe transfers.[5]
See also
References
- ^ Mathijssen, I.B.; Cossey, V.; Fryns, J.P.; De Smet, L.; Devriendt, K. (2006), "Unilateral symbrachydactyly of the foot", Genetic Counselling, 17 (1): 77–88
- ^ Jones, N.; Kaplan, J. (2012), "A new documentation for congenital absent digits", J Hand, 7 (4): 391–399, doi:10.1007/s11552-012-9450-0, PMC 3508023, PMID 24294159
- ^ "Symbrachydactyly | Seattle Children's Hospital". www.seattlechildrens.org. Retrieved 2017-01-10.
- ^ "What causes symbrachydactyly?". 8 July 2010. Retrieved 14 May 2011.
- ^ Symbrachydactyly