What are the other Names for this Condition? (Also known as/Synonyms)

• Unusual Facial Appearance, Skeletal Deformities, and Musculoskeletal and Sensory Defects

What is Cyprus Facial Neuromusculoskeletal Syndrome? (Definition/Background Information)

• Cyprus Facial-Neuromusculoskeletal Syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects
• 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

(Source: Cyprus Facial Neuromusculoskeletal Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cyprus Facial Neuromusculoskeletal Syndrome? (Age and Sex Distribution)

• Cyprus Facial Neuromusculoskeletal Syndrome is an extremely rare congenital disorder. The condition has been so far reported in a single Greek Cypriot family
• The presentation of symptoms may be apparent before birth or soon after birth
• Both males and females may be affected

What are the Risk Factors for Cyprus Facial Neuromusculoskeletal Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Cyprus Facial Neuromusculoskeletal Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cyprus Facial Neuromusculoskeletal Syndrome? (Etiology)

• The exact genetic cause of Cyprus Facial Neuromusculoskeletal Syndrome is not known at the present time
• The inheritance pattern of the syndrome is reportedly autosomal dominant

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Cyprus Facial Neuromusculoskeletal Syndrome?

The signs and symptoms of Cyprus Facial Neuromusculoskeletal Syndrome may include the following:

• Mephistophelian facial appearance that include:
  • 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 
  • Widow's peak
• Congenital kyphoscoliosis
• Hip dislocation
• Congenital talipes equinovarus (club foot)
• Arthrogryposis (contractures in joints)
• Restricted joint stiffness
• Ankyloses
• Ptosis
• Cataracts
• Neurological defects

(Source: Cyprus Facial Neuromusculoskeletal Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Cyprus Facial Neuromusculoskeletal Syndrome Diagnosed?

Cyprus Facial Neuromusculoskeletal Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cyprus Facial Neuromusculoskeletal Syndrome?

The complications of Cyprus Facial Neuromusculoskeletal Syndrome may include:

• Severe pain due to musculoskeletal abnormalities
• Impaired vision
• Compromised mobility
• Abnormal sensations due to neurological defects
• Reduced quality of life
• Low self-esteem due to facial appearance

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cyprus Facial Neuromusculoskeletal Syndrome Treated?

There is no cure for Cyprus Facial Neuromusculoskeletal Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Cyprus Facial Neuromusculoskeletal Syndrome be Prevented?

Cyprus Facial Neuromusculoskeletal Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited genetic disorders such as Cyprus Facial Neuromusculoskeletal Syndrome
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Cyprus Facial Neuromusculoskeletal Syndrome ? (Outcomes/Resolutions)

• The prognosis of Cyprus Facial Neuromusculoskeletal Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Cyprus Facial Neuromusculoskeletal Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/