CDLS patients show a wide range of medical problems, which are treatable and solvable, which are quite specific and sometimes difficult to diagnose.

One of the most frequent medical problems in CDLS children is gastro-esophageal reflux with a prevalence, in different reports, between 70% and 90%. It’s quite clear that this medical problem could not be related with the classical paediatric symptoms (vomiting, regurgitation, poor growth) and present with an atypical clinical signs (nocturnal agitation, recurrent airways infections, hyperactivity, behavioural problems).

In our experience when the general paediatrician decide to perform the proper diagnostic tests (ph study, bowel x ray, endoscopy) very frequently esophagitis or ulceration of esophageal mucosa are already evident.

The treatment is firstly with drugs; in particular situation a surgical intervention can be necessary.

Other frequent medical complications regard eyes (presence of severe myopia and cronical blepharitis), ears (in 20% of the patients a neurosensorial hypoacusis is evident, otitis are very frequent), paranasal sinus (high incidence of polips and sinusitis) tooth (tooth malocclusion/ malposition, multiple caries) gastro-intestinal apparatus (quite frequent evidence of intestinal malrotation which predispose to the development of intestinal volvolus and intestinal occlusion) and skeletal system (hip problems, development of a mild degree of hypertonia at lower limbs).

In about 20% of the affected patients is possible to observe the presence of seizures, usually well controlled by medical therapy.