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Congenital nonprogressive myopathy with Moebius and Robin sequences

MedGen UID:
338115
•Concept ID:
C1850746
•
Disease or Syndrome
Synonyms: Carey-Fineman-Ziter syndrome; CFZ syndrome; Congenital nonprogressive myopathy with Moebius and Robin sequence; Moebius sequence, Robin complex, and hypotonia
SNOMED CT: Congenital nonprogressive myopathy with Moebius and Robin sequences (429753001); Carey Fineman Ziter syndrome (429753001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: MYMX, MYMK
 
Monarch Initiative: MONDO:0031415
OMIM®: 254940; 615345
OMIM® Phenotypic series: PS254940
Orphanet: ORPHA1358

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Congenital nonprogressive myopathy with Moebius and Robin sequences in Orphanet.

Recent clinical studies

Diagnosis

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I; Moebius Syndrome Research Consortium
Muscle Nerve 2021 Apr;63(4):516-524. Epub 2021 Jan 19 doi: 10.1002/mus.27159. PMID: 33389762Free PMC Article
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Camacho A, Martínez B, Alvarez S, Gil-Fournier B, Ramiro S, Hernández-Laín A, Núñez N, Simón R
J Neuromuscul Dis 2020;7(3):309-313. doi: 10.3233/JND-200477. PMID: 32333597
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM
Am J Med Genet A 2017 Oct;173(10):2763-2771. Epub 2017 Aug 4 doi: 10.1002/ajmg.a.38375. PMID: 28777491Free PMC Article
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A
Am J Med Genet A 2016 Aug;170(8):2191-5. Epub 2016 May 27 doi: 10.1002/ajmg.a.37767. PMID: 27232676
Moebius sequence and autism spectrum disorders--less frequently associated than formerly thought.
Briegel W, Schimek M, Kamp-Becker I
Res Dev Disabil 2010 Nov-Dec;31(6):1462-6. doi: 10.1016/j.ridd.2010.06.012. PMID: 20621443

Prognosis

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Camacho A, Martínez B, Alvarez S, Gil-Fournier B, Ramiro S, Hernández-Laín A, Núñez N, Simón R
J Neuromuscul Dis 2020;7(3):309-313. doi: 10.3233/JND-200477. PMID: 32333597
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM
Am J Med Genet A 2017 Oct;173(10):2763-2771. Epub 2017 Aug 4 doi: 10.1002/ajmg.a.38375. PMID: 28777491Free PMC Article

Clinical prediction guides

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A
Am J Med Genet A 2016 Aug;170(8):2191-5. Epub 2016 May 27 doi: 10.1002/ajmg.a.37767. PMID: 27232676
Moebius sequence and autism spectrum disorders--less frequently associated than formerly thought.
Briegel W, Schimek M, Kamp-Becker I
Res Dev Disabil 2010 Nov-Dec;31(6):1462-6. doi: 10.1016/j.ridd.2010.06.012. PMID: 20621443

Supplemental Content