Carey–Fineman–Ziter syndrome

Carey–Fineman–Ziter syndrome (CFZS) is a rare congenital myopathy characterized by a triad of facial weakness, hypotonia, and contractures. First described in the 1980s by Carey, Fineman, and Ziter, this syndrome has since been identified in a small number of cases worldwide, highlighting its rarity and the variability in its presentation and severity.

Clinical Features

The hallmark features of Carey–Fineman–Ziter syndrome include:

• Facial Weakness: Individuals with CFZS often present with facial muscle weakness, which can affect facial expressions and functions such as smiling and blinking.
• Hypotonia: Generalized muscle weakness or low muscle tone is a common finding, which can lead to delays in reaching motor milestones in affected infants.
• Contractures: Joint contractures, particularly in the knees and elbows, are frequently observed. These contractures are present from birth and can limit the range of motion.

Additional features may include micrognathia (small jaw), cleft palate, and ptosis (drooping eyelids). Intellectual development is typically normal in individuals with CFZS, although some may experience developmental delays primarily due to physical limitations.

Etiology

The exact cause of Carey–Fineman–Ziter syndrome is not fully understood, but it is believed to have a genetic basis. Recent studies have identified mutations in the MYMK gene, which is involved in muscle development and function, in some individuals with CFZS. This suggests a molecular mechanism underlying the syndrome, although not all cases can be explained by mutations in this gene, indicating potential genetic heterogeneity.

Diagnosis

Diagnosis of CFZS is primarily clinical, based on the characteristic triad of symptoms. Genetic testing can confirm a diagnosis when mutations in the MYMK gene are identified. Differential diagnosis is important to distinguish CFZS from other neuromuscular disorders with overlapping features, such as congenital myasthenic syndromes and other forms of congenital myopathy.

Management

There is no cure for Carey–Fineman–Ziter syndrome, and management is supportive and symptomatic. Physical therapy and rehabilitation can help improve mobility and prevent contractures from worsening. Orthopedic interventions may be necessary for significant contractures. Regular monitoring by a multidisciplinary team, including neurologists, orthopedists, and physical therapists, is essential to address the various aspects of the syndrome.

Prognosis

The prognosis for individuals with Carey–Fineman–Ziter syndrome varies depending on the severity of symptoms. With appropriate management, many individuals can lead active lives. However, the presence of severe contractures and respiratory muscle involvement can impact life expectancy and quality of life.

Carey–Fineman–Ziter syndrome Resources
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