What are the symptoms? In most children, HD becomes apparent during the first few days of life. The major symptoms in a newborn baby are delayed first bowel movement (also called meconium stools), abdominal distension (enlargement or ballooning of the tummy), chronic constipation (inability to pass stools), and reluctance to feed. Babies with HD may also suffer from inflammation of the bowel lining, which may be associated with fever, diarrhoea, blood in the stools and anaemia (a shortage of red blood cells). They may grow and develop more slowly than other babies. Older children may experience constipation alternating with bouts of diarrhoea, vomiting, pain and anaemia. The length of colon affected can vary from child to child. Short-segment HD involves up to a third of the large intestine and long-segment HD involves more than one third, possibly the whole colon. Seventy per cent of individuals have short segment HD. The severity of the symptoms is not always consistent with the length of the intestinal segment involved but children with the whole colon involved tend to have more severe symptoms. What are the causes? In HD, ganglion cells are missing (aganglionosis) from the very end of the large bowel (anal sphincter and rectum) and in a variable part of the colon above this. This part of the bowel fails to function resulting in symptoms of intestinal obstruction. HD develops in children before they are born (congenital) and appears to be due to genetic factors. A number of genes, for example RET, have been implicated but the genetics is complicated. HD is not caused by anything the mother did while pregnant. How is it diagnosed? HD diagnosis is confirmed with a rectal biopsy. This involves taking a small biopsy (piece of tissue) from the wall of the last part of the large bowel (rectum) to confirm the absence of ganglion cells. How is it treated? If HD is not treated, stool can fill the large intestine causing problems such as infection, bursting of the colon and in some cases this can be life-threatening. Individuals diagnosed with HD require early surgery. Rectal washouts may be used to keep the bowel empty before surgery is done. Surgery essentially involves removal of the aganglionic segment and rejoining of the remaining bowel (‘pull-through’ procedure). The surgery is usually effective in relieving the obstruction caused by HD and most children with HD may lead near normal lives thereafter. In children where there are no ganglia in the whole bowel artificial feeding or consideration for intestinal transplantation may be required. Drug therapy is not effective for HD. Inheritance patterns and prenatal diagnosis Inheritance patternsIn the majority of HD it occurs sporadically without any family history and as an isolated condition (no other medical problems identified). In about 25 to 40 per cent HD appears to be a familial disease (tends to occur among members of a family), but as discussed is not inherited in a simply described manner. Prenatal diagnosisNone at present. Is there support? The Hirschsprung’s & Motility Disorders Support Network Tel: 07935 787776Email: firstname.lastname@example.orgWebsite: hirschsprungs.info The Hirschsprung’s and Motility Disorders Support Network (HMDSN) was established in 1995. It offers support, information and networking opportunities to parents of children with Hirschsprung’s disease and associated conditions. With over 800 members worldwide, the Group holds meetings and works to raise awareness with medical professionals. Group details last checked July 2015.