![]() ![]() Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. ![]() Physical therapy and ergotherapy may ameliorate hand function. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. There is no specific management or treatment that is applicable to all forms of brachydactyly. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14 th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance.ĭiagnosis is clinical, anthropometric and radiological. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.įor the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. ![]() In isolated brachydactyly, subtle changes elsewhere may be present. To date, many different forms of brachydactyly have been identified. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. ![]()
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