Cyprus facial neuromusculoskeletal syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2674

Definition

Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.

Epidemiology

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.

Clinical description

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 fontanel, 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. Other manifestations include restricted joint stiffness, ankyloses, ptosis, and cataracts.

Etiology

The cause of this syndrome is not known.

Genetic counseling

This condition is likely to be autosomal dominant.

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