| The syndrome has been described in a single Greek Cypriot family, over three generations. There have been no further descriptions in the literature since 1992. Affected individuals have a striking facial appearance (described as Mephistophelian) and variable skeletal deformities and neuromuscular abnormalities. The facial appearance consists of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanelle, elevation of the medial portion of the eyebrows bilaterally, hypertelorism, low-set ears, posteriorly rotated ears and widow's peak. Musculoskeletal features may coexist and include congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus and arthrogryposis. Neurological and musculoskeletal defects are severe and incapacitating in some affected family members, while all have normal intelligence. The cause of this syndrome is not known. |
