Details of Disease

General Information of Disease (ID: DISV4HK2)

Disease Name Carey-Fineman-Ziter syndrome 1
Synonyms
CFZS; myopathy, congenital nonprogressive with Moebius and Robin sequences; Carey Fineman Ziter syndrome; Moebius sequence, Robin complex, and hypotonia; congenital nonprogressive myopathy with Moebius and Robin sequences; myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence; Carey-Fineman-Ziter syndrome 1; CFZS1; myopathy-Moebius-Robin syndrome
Definition
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 Hierarchy
DISURG05: Carey-Fineman-Ziter syndrome
DISV4HK2: Carey-Fineman-Ziter syndrome 1
Disease Identifiers
MONDO ID
MONDO_0800437
UMLS CUI
C5676876
OMIM ID
254940
MedGen ID
1804638

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYMK OTJZE032 Strong Autosomal recessive [1]
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References

1 A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.