Carey-Fineman-Ziter Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Carey-Fineman-Ziter-Syndrome (CFZ) or Myopathie-Moebis-Robin-Syndrome is a very rare disease with a combination of decreased muscle tone, bilateral facial paralysis and disturbance of the eye abduction (Möbius-Sequence), Pierre-Robin-Sequence , growth retardation and eye-catching face shape.

The name refers to the authors of the first description from 1982, John C. Carey , Robert M. Fineman and Fred A. Ziter .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . Few cases have been reported so far. However, the repetition risk for siblings seems to be lower than 25%.

root cause

As a cause either non-specific peripheral (myopathic) or central (brain malformation) anomalies are considered of hypotonia.

Clinical manifestations

Clinical characteristics are muscle hypotension, Moebius sequence (congenital bilateral facial paresis with impaired abduction of the eyeballs), Pierre Robin sequence (microgenius, glossoptosis, high palate or cleft palate), conspicuous face and growth retardation. Various anomalies of the brain can also occur, Poland syndrome, hypospadias or clubfoot have also been found.

diagnosis

The diagnosis arises from the clinical symptoms; imaging, preferably using magnetic resonance imaging, is required to detect the brain anomalies .

literature

  • JC Carey: The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis. In: American journal of medical genetics. Part A. Volume 127A, Number 3, June 2004, pp. 294-297, ISSN  1552-4825 . doi : 10.1002 / ajmg.a.20689 . PMID 15150782 .

Individual evidence

  1. ^ A b c Carey-Fineman-Ziter syndrome. In: Orphanet (Rare Disease Database).
  2. ^ JC Carey, RM Fineman, FA Ziter: The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. In: The Journal of pediatrics. Volume 101, Number 5, November 1982, pp. 858-864, ISSN  0022-3476 . PMID 7131178 .

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