Symbrachydactyly
Encyclopedia
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly
Brachydactyly
Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...

, cutaneous syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...

 and global hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...

 of the hand or, rarely, foot. 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.

Symbrachydactyly has been reported to appear without other combined limb anomalies and usually in one arm in 1 in 30,000 births to 1 in 40,000 births .

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 your child will pass the condition on to his or her children.

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
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...

 or a routine of regularly stretching the fingers.

Symbrachydactyly may be confused with Poland syndrome
Poland syndrome
Poland syndrome is a rare birth defect characterized by underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side mostly common on the right...

, which is a separate disorder which includes a missing pectoral muscle
Pectoralis major muscle
The pectoralis major is a thick, fan-shaped muscle, situated at the chest of the body. It makes up the bulk of the chest muscles in the male and lies under the breast in the female...

as one of its symptoms.

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.

External links

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