Carey Fineman Ziter Syndrome

Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the literature.

Signs and symptoms

Several features have been described in this syndrome. These include

• cleft palate
• micrognathia
• laryngostenosis
• developmental delay
• small pons
• scoliosis
• myopathy
• intermittent episodes of hypertension
• Poland sequence
• Möbius sequence
• hydronephrosis
• bilateral clubfeet (talipes)

Genetics

Mutations in the gene Myomaker (MYMK) have been shown to be responsible for this condition. The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive.

Pathogenesis

The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells. Mutations in this protein result in failure of myoblast fusion.

Diagnosis

Diagnosis is made by sequencing the MYMK gene.

Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI.

Differential diagnosis

• Native American myopathy
• Moebius syndrome

Treatment

There is no curative treatment known. Management is supportive.

History

The condition was first described in 1982.