The Epidemiology of Moebius Syndrome in Italy

Abstract

Background: The epidemiology of Moebius Syndrome (MBS) is actually difficult to assess. In the present study we investigated the epidemiology of MBS in a well-defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral Centre for the diagnosis and treatment of MBS. Participants to this cross-sectional study are patients affected by MBS who have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro- areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population available. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: One-hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years, ranging from 0-55; this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients included after 2007. The birth prevalence calculated was 0.06 cases per 10000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any regional difference in the distribution of the cases. Our data confirm on a national basis the rarity of the disease.

Moebius syndrome: A case report from Indonesia

“…Moebius syndrome can also involve other cranial nerves with deformities and other various manifestations of congenital malformations belonging to the large group of oromandibular-limb hypogenesis syndrome (OMLH) [2]. The incidence of Moebius syndrome is 0.27/100,000 live births and is often associated with abortion attempts [3]. It is a rare neurological condition that has received little attention in clinical diagnosis and so its incidence is not widely reported in daily practice.…”