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Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
ORPHA:1358Classification level: Disorder
Less than 20 cases have been reported the literature, including two pairs of sibs.
Most patients had non-specific peripheral (myopathy) or central (brain anomaly) causes of hypotonia. Some had a non-specific myopathy, with consequent severe scoliosis. Other features, reported in one or two patients with CFZ, included brain anomalies (ventriculomegaly, reduced white matter, neuronal heterotopias, small foci of necrosis with microcalcifications, small pons and brainstem with enlarged pre-pontine and pontocerebellar cisterns), absence of the pectoralis major muscle with an ulnar deviation of the hand (Poland sequence), laryngostenosis, unexplained intermittent arterial hypertension with facial flushing and sweating, hydronephrosis, glanular hypospadias, and talipes equinovarus. Intelligence may be normal but mental disability has been reported. One patient also presented with a gastrointestinal disturbance with biopsy-proven villous atrophy.
Diagnosis can be made on the basis of clinical features, but magnetic resonance imaging (MRI) is necessary to detect the brain anomalies.
Although CFZ syndrome has been reported in two pairs of sibs, suggesting an autosomal recessive mode of inheritance, the recurrence risk does not seem to be as high as 25%.
Management and treatment
Scoliosis necessitated rod placement in one patient during adolescence, and in another case induced restrictive lung disease and death from pneumonia at 37 years of age.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)