For children with Malan syndrome, an ultra-rare genetic pathology, the first guidelines arrive with detailed indications on the diagnosis and correct clinical management. They were developed by the specialists of the Bambino Gesù Pediatric Hospital and the Great Metropolitan Hospital of Reggio Calabria at the end of a study on a group of 16 patients affected by the disease. The clinical characteristics of the pathology, described for the first time in 2010, have also been precisely delineated. The guidelines and new information on the syndrome, published in the Orphanet Journal of Rare Disease, are now available to the international scientific community.

Described only 12 years ago, Malan syndrome is an ultra-rare genetic disorder characterized by overgrowth, macrocephaly, craniofacial dysmorphism, anomalies affecting different parts of the body, developmental delay, atypical behavior and various degrees of intellectual disability. The prevalence is about 1 in 1 million children and there are fewer than 90 cases reported in the literature worldwide. The study of Bambino Gesù and of the Reggio Calabria Hospital brings new detailed information on the characteristics of the disease which, due to the still limited knowledge and the clinical similarities with Sotos syndrome (another rare condition from overgrowth), has been called “Sotos 2”.

The study on Malan syndrome was conducted at the Bambino Gesù Pediatric Hospital on a group of 16 patients (13 pediatric patients and 3 young adults) within a dedicated outpatient procedure. The group was systematically evaluated for 18 months by a multidisciplinary team coordinated by pediatric specialists in Rare Diseases and Medical Genetics of Bambino Gesù with the scientific collaboration of the expert of the Medical Genetics Unit of the Great Metropolitan Hospital of Reggio Calabria and the support of ASSI Gulliver, the Italian association that brings together and supports people affected by the syndromes of Sotos and Malan.

With the information gathered during the observation period of the 16 patients, the multidisciplinary research group precisely defined the clinical characteristics of the syndrome (deep phenotyphing) and elaborated the first guidelines: a series of international reference indications for early identification of the main manifestations of the disease, for the correct clinical management of patients and for monitoring evolutionary complications. The reference authors of this work published in the Orphanet Journal of Rare Disease are Dr. Marina Macchiaiolo of the Rare Diseases and Medical Genetics of Bambino Gesù and Dr. Manuela Priolo, of the Medical Genetics Unit of the Great Metropolitan Hospital of Reggio Calabria.