Cyprus facial neuromusculoskeletal syndrome

Alternate names

Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects

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.

Cause

The cause of this syndrome is not known.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

This condition is likely to be autosomal dominant.

Signs and symptoms

• 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.

NIH genetic and rare disease info

• NIH info on Cyprus facial neuromusculoskeletal syndrome

Cyprus facial neuromusculoskeletal syndrome is a rare disease.

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