Symbrachydactyly

Symbrachydactyly

Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or, rarely, foot. [Citation
last = Mathijssen
first = I.B.
last2 = Cossey
first2 = V.
last3 = Fryns
first3 = J.P.
last4 = De Smet
first4 = L.
last5 = Devriendt
first5 = K.
title = Unilateral symbrachydactyly of the foot
journal = Genetic Counselling
volume = 17
issue = 1
pages =77-88
year = 2006
] In many cases, bones will be missing from the fingers and some fingers may be missing altogether. The ends of the hand may have "nubbins"—small stumps where the finger would have developed, which may have tiny residual nails. Fact|date=February 2007

Symbrachydactyly has been reported to appear without other combined limb anomalies in 1 in 30,000 births. [Citation
last = Castilla
first = Eduardo E.
last2 = Paz
first2 = Joaquin E.
last3 = Orioli-Parreiras
first3 = Iêda M.
last4 = Opitz
first4 = John M.
last5 = Hermann
first5 = Jürgen
title = Syndactyly: Frequency of specific types
journal = American Journal of Medical Genetics
volume = 5
issue = 4
pages =657-364
date = 2 Jun
year = 2005
url= http://www3.interscience.wiley.com/cgi-bin/abstract/110514495/ABSTRACT?CRETRY=1&SRETRY=0
]

The cause of symbrachydactyly is unknown; doctors theorize that it results from a failure of blood flow in the affected arm, causing the fingers, hand, or part of the arm itself to cease development.Fact|date=February 2007

In most cases, children born with symbrachydactyly are able to adapt to their physical limitations and experience a fully functional life with no treatment. Possible treatment includes surgery or a routine of regularly stretching the fingers.

Symbrachydactyly may be confused with Poland syndrome, which is a separate disorder which includes a missing pectoral muscle as one of its symptoms.Fact|date=February 2007

References

External links

* [http://www.childrenshospital.org/az/Site1108/mainpageS1108P0.html Children's Hospital Boston - What is symbrachydactyly?]


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  • symbrachydactyly — noun A congenital abnormality of the hand, characterized by missing or malformed fingers. See Also: brachydactyly, syndactyly …   Wiktionary

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  • Pectoralis muscle absence with syndactyly — A unique pattern of one sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called… …   Medical dictionary

  • Poland anomaly — A unique pattern of one sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called… …   Medical dictionary

  • Poland sequence — A unique pattern of one sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called… …   Medical dictionary

  • Poland syndactyly — A unique pattern of one sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called… …   Medical dictionary

  • Poland syndrome — A developmental disorder of the chest wall involving a unique pattern of one sided malformations characterized by a defect (absence or underdevelopment) of the main chest muscle (the pectoralis major) on one side of the body and webbing of the… …   Medical dictionary

  • Syndactyly, Poland — A unique pattern of one sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called… …   Medical dictionary

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