Cornelia de Lange syndrome and differential diagnosis [62 genes]

Cornelia de Lange syndrome is a polymalformative condition mainly recognizable by characteristic facial dysmorphisms. The presence of hypertrichosis, arched eyebrows, synophridia, anteverted nostrils, maxillary prognathism, a long and smooth philtrum, corners of the mouth with a downward inclination, and a thin upper lip stand out, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, anomalies of the upper extremities. However, there is a high clinical heterogeneity in this disease.

Cornelia de Lange syndrome: 1 / 80,000 (ORPHA:199).

Recommended service when there is, at least, moderate suspicion that the patient suffers from Cornelia de Lange syndrome. The approach through this exome service will allow a simultaneous approach to all the genes involved in the phenotype and those related to entities commonly considered in the differential diagnosis. Likewise, it detects single nucleotide variants (SNVs), small insertions and deletions, and copy number variations (CNVs), which play a prominent role in the different genes associated with this entity.

The benefits derived from a genetic diagnosis are aimed at closing the diagnosis and family genetic counseling and establishing a follow-up adapted to the entity suffered to achieve early detection of associated comorbidities.

Service is indicated when there is at least moderate suspicion that the patient suffers from Cornelia de Lange syndrome.

Among patients with a clinical diagnosis of Cornelia de Lange syndrome, it is possible to find the molecular cause in up to 95% of them.