French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

Kabuki syndrome (KS) is a rare syndrome, sporadic dominant condition with a frequency of 1 / 35000 (between 20 and 25 new children by year in France). Five cardinal criteria have been described for this diagnosis: postnatal growth retardation, mild to moderate mental retardation, skeletal abnormalities, dermatoglyphic abnormalities and characteristic facial dysmorphism. Moreover, a large number of other symptoms are described in KS. Each year, new symptoms are reported in the international literature but without their true frequency or recommendations for the management of patients. However, these criteria are not always present in patients and there is no major or minor criteria for establishing the diagnosis. Nowadays, knowledge of this syndrome is still very fragmentary. At the date of the creation of the network, no molecular basis has been identified for the SK.

We propose to create a national network of geneticists including 18 centers labeled "developmental defects" and / or mental retardation in France gathered in Federation Development Centers labeled anomalies (the FECLAD, Head, Professor A VERLOES, Hospital Robert Debré, Paris). We will also rely on Kabuki Syndrome Association that gives us logistical support with families.

The objective of the French Kabuki syndrome network of (FKSN) is to establish a national network to:

1. create a census for the duration of the search for French patients with SK (expected number of patients = 110) for

• determining epidemiological and morphological parameters,
• determine the true frequency of clinical symptoms and identify new ones,
• identify complications of the disease to improve the care of patients in the hope of a better prognosis of the disease and
• performing a radiological study by Voxel based morphometry MRI type (N. BODDAERT, HOPITAL Necker-Enfants Malades, Paris)