Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterised by the absence or underdevelopment of the abducens nerve (CN VI) and facial nerve (CN VII) nuclei.
Möbius syndrome is rare with an estimated incidence of ~1 case per 100,000 births 4.
The earliest sign is the inability of the newborn to suckle, with an expressionless face, and drooling. Paralysis may be unilateral or bilateral.
As individuals grow older, the most conspicuous signs are an inability to close their mouths or smile. Also blinking or closing the eyes is impossible.
Aetiology is multifactorial, and several theories have been proposed, with the most supported theory being of a transient ischaemic or hypoxic insult to the fetus. Infectious and genetic aetiologies have also been proposed.
Additional brainstem involvement is also common and may include other cranial nerves as well as the musculoskeletal system. Grading schemes have been proposed which include additional manifestations (e.g. CLUFT (cranial nerve, lower limb, upper limb, face, and thorax)).
MRI findings are those of brainstem hypoplasia (pons and medulla) with straightening of the floor of the fourth ventricle as a result of absence of the facial colliculus. Cerebellar hypoplasia, calcification of the pons in the region of the abducens nuclei and even absence of the middle cerebellar peduncles have been reported.
Treatment and prognosis
The disease is not progressive.
Various plastic surgery procedures can be performed to attempt to recover facial muscles function. For example, microvascular transfer of a gracilis muscle to the face.
History and etymology
The clinical syndrome was first described by Paul Julius Möbius (1853-1907): German neurologist.
- 1. Pedraza S, Gámez J, Rovira A et-al. MRI findings in Möbius syndrome: correlation with clinical features. Neurology. 2000;55 (7): 1058-60. Neurology (full text) - Pubmed citation
- 2. Ouanounou S, Saigal G, Birchansky S. Möbius syndrome. AJNR Am J Neuroradiol. 2005;26 (2): 430-2. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 3. Parker DL, Mitchell PR, Holmes GL. Poland-Möbius syndrome. J. Med. Genet. 1981;18 (4): 317-20. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Verzijl HT, van der Zwaag B, Cruysberg JR et-al. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology. 2003;61 (3): 327-33. doi:10.1212/01.WNL.0000076484.91275.CD - Pubmed citation