Clinical features

The diagnosis of CDLS is based on the simultaneous presence of specific clinical features (peculiar face, typical hands and feet shape, hyperthricosis), poor gain in weight and height and variably retarded psychomotor retardation.

Physical growth

Affected CDLS patients show usually a poor physical growth in the pre-natal period; very frequently the neonates with CDLS have a low birth weight.

The difficulties in weight and height gain persist also in the post-natal period. Children with CDLS typically has sucking and swallowing problems so that they are usually able to take only few amount of food in the first months of life. Also if a minority of patients needs particular help taking food (naso-gastric tube) it’s important to underline that these problems are usually transitory and that all older CDLS older patients are able to take food spontaneously without particular difficulties.

To better follow the growth of a CDLS child is very important to use the specific growth charts, which are available. These charts give to the pediatricians and parents the opportunity to better evaluate the growth of the child because it’s compared with his true “genetic normality”.

Specific charts are also available as regard the evolution of head circunference.

The rule in CDLS is that poor growth is not caused by hormonal deficencies (such as GH deficit); for this reason treatment with GH is not justified in these patients apart from very rare situations in which an hormonal deficit has been demostrated.

Puberty development and fertility are absolutely normal in CDLS. For this reason it’s very important to face the problem of sexual emotions in the adolescence. Moreover for girls mestrual pain and disconfort have to be considered above all for those people with few communicative abilities.

Face

As it happen in every malformative syndrome people with CDLS have common facial traits which are one of the peculiar elements of the clinical diagnosis.

Frontal hairline is usually low and frequently frontal hair are evident. The tendency toward having an increased body hair is quite typical of these patients with variable severity; forearms and lumbo-sacral region are the common places in which this hypertricosis is more commonly evident.

Other typical facial features of CDLS are the arched eyebrows, synophria, thick eyelashes; the nose usually has a triangular shaped tip, the phyltrum is long and featureless. Lips are thin and downturned; frequently the central part of the upper lip has a sort of protrusion which is faced by a little depression on in the same part of the lower lip. Micrognathia can be evident. The skin commonly has a peculiar colour defined “cutis marmorata”. Nipples and umbilicus are frequently hypoplastic.

Limbs

Hands and feet of CDLS children are usually little, particularly the 1° and 5° ray. This features is not associated with specific functional defects

On the contrary one third of CDLS can have true limb/hand malformations; the hands or one of more fingers (usually on the ulnar side of the hand) can be absent; in this different situation the functional deficit is greater and the child needs a specific evaluation to find the best way to improve his functionality also through a surgical approach

It can be also present a decreased of the movements at elbow level because of a specific anomaly (hypoplasia) at the proximal part of radius. Commonly this features doesn’t cause particular functional problems.

During the years it’s also possible that hip problems can become evident causing potential problems in walking.

Major malformations

CDLS people can have one or more major malformations also if this features is not a “conditio sine qua non” for the clinical diagnosis. Every apparatus or internal organ can be involved.

In male patients, for example, mono or bilateral cryptorchidism is quite frequent. Cleft palate can also be present and this situation can create problems with eating and hearing.

Heart malformations are sometimes present without a specific prevalence of a single type of anomaly; recently it has been observed a discrete prevalence of urinary tract anomalies.

More rare are eyes and central nervous system malformations.

Finally medical literature reports rare cases of CDLS neonates with diaphragmatic hernia; the presence of this severe malformation can negatively condition “quoad vitam” prognosis of the child.

Neurological and behavioural features

Psychomotor and cognitive development of CDLS patients is retarded.

It has been published specific charts which define the range of variability of acquisition of the common developmental milestones (sitting position, walking, first words).

The severity of retardation is variable but is mostly classified in the moderate – severe range. CDLS patients show a specific deficit in expressive language also if their cognitive level is probably higher.

For this reason it’s very important to offer to the CDLS child or young adult an alternative way of communication to avoid negative behavioural feed-back.

At behavioural level CDLS people show poor attention and concentration ability; quite frequently they also are hyperactive.

This last behavioural problem, which seems to be positively related to the severity of mental retardation, can also be a consequence of the presence of undiagnosed and untreated medical complications causing pain. In these cases an appropriate medical treatment has also a positive effect on behaviour.

Another possible cause of the behavioural problems is an emotional - psychological consequence of the impaired verbal communication.

For this reasons behavioural problems need a multi-disciplinary approach to find the right cause and the proper treatment.