Carey-Fineman-Ziter syndrome

Orpha code: 1358OMIM code: 619941

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Myopathy-Moebius-Robin syndrome
Zespół miopatia - Moebius - Robin
ORPHA code
1358
OMIM code
619941
ICD10 code
Q87.0
ICD11 code
LD2F.1Y

No additional description.

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