Abstract
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.
Highlights
(BD) refers to the shortening of the hands, feet or both
Even if acrodysostosis and tricho-rinho-phalangeal syndrome cannot be considered as conditions with a pure brachydactyly E, as they have peculiar radiological features, sometimes they are misdiagnosed as syndromic BDE, so we will try to define the specific characteristics that distinguish them from all the other conditions
With the aim of helping to identify the most probable genetic diagnosis to inform the clinical management of the aforementioned syndromes with BDE, we have established a diagnostic algorithm including specific differential features (Figure 8)
Summary
(BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypoparathyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. We describe some common syndromes in which BDE is present, outlining their main clinical, biochemical and genetic characteristics (Additional file 1: Table S1), with the aim of establishing an algorithm for the accurate diagnosis of BDE in association with other features. Even if acrodysostosis and tricho-rinho-phalangeal syndrome cannot be considered as conditions with a pure brachydactyly E, as they have peculiar radiological features, sometimes they are misdiagnosed as syndromic BDE, so we will try to define the specific characteristics that distinguish them from all the other conditions. One of these specific features is multihormonal resistance, mainly to parathyroid hormone (PTH) and thyroid hormone (TSH). We use this feature to classify the syndromes into two groups depending on the presence of multihormonal resistance as many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
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 call
