Joubert syndrome.

Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.

Fanconi anaemia.

Fanconi anaemia is a rare inherited genetic condition that can lead to aplastic anaemia and bone marrow failure. People with the condition have a predisposition to some cancers. The condition is named after Swiss paediatrician Guido Fanconi.

Achondroplasia.

Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.

Improving care for children requiring surgery and their families.

Despite the publication over many years of guidance and policies related to children in hospital and children having surgery, concerns remain about the standards of care provided to children and families. A survey of 63 nurses working with children was carried out by members of the Royal College of Nursing Children's Surgical Nurses Forum to evaluate the extent of implementation of guidance related to: children's choices in relation to theatre garments, whether parents or the main carer can accompany the child into the anaesthetic room and be with their child in the recovery area, and which healthcare professionals are available to support the child and family during transfer to theatre and in the theatre environment. Forty four nurses responded (70 per cent). Results indicated that at least one parent was almost always given the opportunity to be present at induction and in recovery. Only 36 per cent said that children are always offered a choice of what to wear The presence of qualified children's nurses in theatres was reported to be limited. Policy principles and guidance documents can be used by nurses to influence new ways of working to ensure practices are appropriate for children undergoing surgery.