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Arachnodactyly—a key to diagnosing heritable disorders of connective tissue

Abstract

Arachnodactyly literally means spidery fingers, and describes the long, slender fingers typical of patients with Marfan syndrome (MFS). Many clinicians regard arachnodactyly as pathognomonic of MFS; however, this view is misleading as arachnodactyly is a key element of the marfanoid habitus, which is present in several heritable disorders of connective tissue (HDCTs). Other features of the marfanoid habitus include long hands and feet, increased skin stretch, joint hypermobility and characteristic changes in the physiology of the pectum. Here, we focus on the differential diagnosis of diseases with features of the marfanoid habitus. Ectopia lentis (lens dislocation) and aortic root dilation or dissection are cardinal features of MFS. Distinguishing MFS from other HCDTs has important implications for treatment, as cardiovascular and ocular complications commonly seen in patients with MFS are not seen in all HDCTs. Joint hypermobility syndrome and Ehlers–Danlos syndrome are also HDCTs, neither of which is associated with ectopia lentis or aortic changes. Some of the rarer forms of Ehlers–Danlos syndrome are associated with severe vascular, dental and skin pathologies. This Review serves as a guide for correctly diagnosing members of the HDCT family.

Key Points

  • Arachnodactyly is a key feature of the marfanoid habitus and thus a reliable pointer to the presence of a heritable disorder of connective tissue (HDCT)

  • Joint hypermobility syndrome is the most commonly seen HDCT

  • The differential diagnosis of arachnodactyly is wide and extends to include many rare genetic syndromes

  • Incomplete forms of the marfanoid habitus are highly prevalent and can be benign, but should lead to an assessment for the presence of an HDCT

  • Neither arachnodactyly nor the marfanoid habitus on its own can be regarded as pathognomonic of Marfan syndrome in the absence of either cardiac or ocular involvement

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Figure 1: Arachnodactyly.
Figure 2: Selected features of the marfanoid habitus.
Figure 3: Increased skin stretch in a patient with Ehlers–Danlos syndrome during phase of taking up slack.
Figure 4: Decision tree for diagnosing patients with heritable disorders of connective tissue.

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Acknowledgements

The authors would like to thank their patients whose photographs have been used in this article.

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R. Grahame and A. J. Hakim made substantial contributions to discussions of content and review/editing of the manuscript before submission, and R. Grahame researched data for the article and wrote the article.

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Correspondence to Rodney Grahame.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Figure 1

Identifying some of the features of the marfanoid habitus. (PDF 6949 kb)

Supplementary Box 1

The nine-point Beighton hypermobility scoreS1 (DOC 30 kb)

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Grahame, R., Hakim, A. Arachnodactyly—a key to diagnosing heritable disorders of connective tissue. Nat Rev Rheumatol 9, 358–364 (2013). https://doi.org/10.1038/nrrheum.2013.24

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