Cornelia De Lange Syndrome

What is it?

In its classic form, Cornelia de Lange Syndrome (CdLS) is characterized by special facial features, stunted growth (with prenatal onset, postpartum growth usually below the 5th percentile), hirsutism, and defects affecting the upper limb, ranging from minor phalanx abnormalities to oligodactyly. Characteristic craniofacial features include well-drawn and arched eyebrows, sinophria, lengthening of the eyelashes, inverted nostrils, small, widely spaced teeth, micrognathia, and microcephaly. IQ usually ranges from 30 to 120 (average 53). Many people with the syndrome also exhibit autistic tendencies. Other common manifestations are heart defects, gastrointestinal dysfunctions, hearing loss, myopia, cryptorchidism, and hypoplasia of the genitals. People with milder phenotypes usually have less severe growth impairment and less severe cognitive impairment and limb abnormalities, although facial dysmorphisms typical of this syndrome are often recognized.

Which are the symptoms?

Currently, the diagnosis of the disease occurs mainly by morphological observation of the features of the patient's face, head and limbs. Prenatal diagnosis is possible with ultrasound, which may reveal intrauterine growth retardation and limb abnormalities, findings that may indicate early diagnosis of CdLS. Therefore, the diagnosis is predominantly clinical.

How is it diagnosed?

Diagnostic confirmation is based on looking for mutations in NIPBL, SMC1A and SMC3, the only genes currently associated with the syndrome. Mutations in NIPBL are responsible for about 60% of CdLS cases; mutations in SMC1A and SMC3 are found in a small percentage of patients.

How is it treated?

The therapy is multidisciplinary / symptomatic to improve the quality of life of patients. Psychotherapeutic and psychological-pedagogical treatment is of fundamental importance.

Where do we treat it?

Within the San Donato Group, you can find Cornelia De Lange Syndrome specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.