ALTERNATE NAMES

Carey-Fineman-Ziter Disease; CFZ Disease; CFZS; CFZ Syndrome; Congenital Non-Progressive Myopathy with Moebius and Robin Sequences; Myopathy-Moebius-Robin Syndrome

DESCRIPTION

Carey-Fineman-Ziter Syndrome (CFZS) is a very rare genetic muscular disorder that is present at birth (congenital myopathy). It is characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre Robin sequence), among other symptoms.

CFZS is caused by mutations in the MYMK gene that encodes the protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) during the development of an embryo and the regeneration of muscle cells after injury.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for CFZS may include:

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  Physical examination;

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  Genetic testing;

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  Medical and family medical history; and

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  Magnetic resonance imaging (MRI).

Physical findings: Signs and symptoms of CFZS may include:

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  Anteverted nares (upturned nose);

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  Aplasia/hypoplasia (absence or underdevelopment of the tongue);

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  Brachydactyly (short fingers or toes);

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  Downward slanting palpebral fissures (the opening between the eyelids);

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  Prominent epicanthus (upper eyelid fold covering the inner corner of the eye);

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  Facial palsy;

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  Hypotonia (low muscle tone);

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  Impaired ocular abduction (eye movement away from nose);

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  Intellectual disability;

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  Long philtrum (vertical groove located in the center of the upper lip);

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  Microcephaly (abnormally small cranium);

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  Micrognathia (decreased size of lower jaw);

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  Pierre Robin sequence;

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  Ptosis (drooping upper eyelid);

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  Scoliosis;

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  Short nose;

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  Short stature;

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  Skeletal muscle atrophy; and

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  Thin vermilion border (decreased volume of lip).

ICD-9: 359.9

ICD-10: Q87.0

PROGRESSION

CFZS is a lifelong condition without a cure. Prognosis for CFZS is fair. Individuals with this condition will likely have notable impact on their life and ability to function.

TREATMENT

Treatment for CFZS addresses symptoms of the condition.

Primary care providers, geneticists, neurologists, and other health care professionals may need to plan an affected individual’s treatment systematically and comprehensively.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Genetic testing results; and

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  Results of MRI.

Suggested Listings for Evaluation:

Meets

101.24

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