Abstract
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. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.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 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. 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.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. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.
Highlights
Definition The term brachydactyly is derived from the ancient Greek
The number of syndromic forms of brachydactyly is extensive, and, dictated by our expertise, only 21 entities were included in this review
Molecular analysis of isolated forms of brachydactyly has shed some light on the role of certain genes in normal human skeletogenesis and limb formation
Summary
Definition The term brachydactyly is derived from the ancient Greek (brachy-: short; dactylos: digit). The child had angle-shaped appearance of the proximal phalanges of index and middle fingers in one hand and more typical triangular epiphyses with elongation of their radial side at the opposite hand suggesting that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay Epidemiology This type of brachydactyly is rare with only few reported pedigrees [4]. Pitt and Williams [47] described a 'new' type of brachydactyly in 12 members of four generations combining features of types B and E with hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
