Relevant Syndromes

Abstract

The advent of modern genetic techniques has transformed diagnosis of rare disorders and led to recognition of new ones. Many affect the skeleton and may require the attention of paediatric orthopaedic surgeons. The orthopaedic problems which result may include scoliosis, skeletal disproportion, increased fracture risk, osteopenia/osteoporosis and joint abnormalities such as contractures. Some of these conditions, such as osteogenesis imperfecta or achondroplasia, are dealt with elsewhere in this book.

Children with syndromes may also develop orthopaedic problems just like any other child. In this chapter, we provide an overview of syndromes that need special orthopaedic consideration.

All GPs encounter children with rare diagnoses, with which they are unfamiliar. Indeed, many children have no diagnosis at all. It is important to be aware that orthopaedic problems may occur, which affect comfort or function and these will require specialist input. Awareness of syndromes also helps GPs to support children and their families in coping with the sequelae of these conditions and we hope will be helpful in shared decision making in the management of the many problems which afflict these children.

When encountering an unfamiliar condition, a useful resource is the Genetic & Rare Diseases Information Center of the US National Institutes of Health: https://rarediseases.info.nih.gov/ which provides descriptions of clinical features and problems encountered for a vast array of disorders.