Brachydactyly

Definition

Definition of Brachydactyly
Brachydactyly, is a medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes.

Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3rd (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.

Symptoms

Symptoms of Brachydactyly
The list of signs and symptoms mentioned in various sources for Brachydactyly tibial hypoplasia includes the 14 symptoms listed below:

1. Short digits
2. Arthritis
3. Bone cyst
4. Irregular finger length
5. Irregular finger shape
6. Asymmetrical lower legs
7. Foot bone anomaly
8. Osteoporosis
9. Restricted joint mobility
10. Scoliosis
11. Short stature
12. Absent tibia
13. Abnormal tibia
14. Abnormal tibial ray

Causes

Causes of Brachydactyly
For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance.

Diagnosis

Diagnosis of Brachydactyly
Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known.

Prognosis

Prognosis of Brachydactyly
If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.

Treatment

Treatment of Brachydactyly
There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function.

Prevention

Prevention of Brachydactyly
Consult with your doctor.