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Brachydactyly - PubMed

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Review

Brachydactyly

Samia A Temtamy et al. Orphanet J Rare Dis. 2008.

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.

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Figures

Figure 1
Figure 1

A diagram showing main types of isolated brachydactyly. Modified from Temtamy & McKusick [1].

Figure 2
Figure 2

Pedigree of an Egyptian family with BDA1 denoting autosomal dominant inheritance. (Limb Malformations & Skeletal Dysplasia Clinic, Medical Services Unit (MSU), NRC).

Figure 3
Figure 3

Hands and X-ray hands of an Egyptian patient with BDE. Note the short 4th and 5th metacarpals of hands. (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 4
Figure 4

Egyptian sibs with autosomal recessive Robinow syndrome. Note characteristic fetal face (A), hypogenitalism (B) and brachydactyly of hands and feet (C, D). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 5
Figure 5

Autosomal recessive Robinow syndrome. X-ray upper limbs and hands showing mesomelic shortening and brachydactyly (A), gingival hyperplasia (B) and X-ray vertebrae showing hemivertebrae and vertebral fusion. (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 6
Figure 6

An Egyptian patient with Rubinstein-Taybi syndrome. Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 7
Figure 7

An Egyptian patient with du Pan syndrome. Frontal view of whole body (A), hands and feet with severe complex brachydactyly (B, C). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 8
Figure 8

An Egyptian patient with du Pan syndrome. Note absence of both fibulae (A), X-ray of both hands and feet showing severe brachydactyly and radial deviation of fingers (B, C). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

Figure 9
Figure 9

An Egyptian patient with Temtamy preaxial brachydactyly syndrome. Note round flat face (A), preaxial brachydactyly of hand and feet (B, C) and X-ray of both hands showing preaxial brachydactyly and hyperphalangism. (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC).

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