CFZS
MCID: CRY032
MIFTS: 42

Carey-Fineman-Ziter Syndrome (CFZS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carey-Fineman-Ziter Syndrome

MalaCards integrated aliases for Carey-Fineman-Ziter Syndrome:

Name: Carey-Fineman-Ziter Syndrome 56 12 52 58 73 36 15
Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 52 29 6
Cfzs 56 52 73
Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 56 73
Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences 52 71
Myopathy-Moebius-Robin Syndrome 52 58
Cfz Syndrome 52 73
Congenital Non-Progressive Myopathy with Moebius and Robin Sequences 73
Moebius Sequence, Robin Complex, and Hypotonia 52
Syndrome, Carey-Fineman-Ziter 39
Carey Fineman Ziter Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
carey-fineman-ziter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in infancy or in late teen years


HPO:

31
carey-fineman-ziter syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Carey-Fineman-Ziter Syndrome

OMIM : 56 Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. (254940)

MalaCards based summary : Carey-Fineman-Ziter Syndrome, also known as congenital nonprogressive myopathy with moebius and robin sequences, is related to myopathy, congenital, bailey-bloch and moebius syndrome, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Carey-Fineman-Ziter Syndrome is MYMK (Myomaker, Myoblast Fusion Factor). Affiliated tissues include brain, skeletal muscle and cerebellum, and related phenotypes are muscular hypotonia and short nose

Disease Ontology : 12 A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.

NIH Rare Diseases : 52 Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence ), among other symptoms. CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development. Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement.

KEGG : 36 Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.

UniProtKB/Swiss-Prot : 73 Carey-Fineman-Ziter syndrome: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.

Wikipedia : 74 Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the... more...

Related Diseases for Carey-Fineman-Ziter Syndrome

Graphical network of the top 20 diseases related to Carey-Fineman-Ziter Syndrome:



Diseases related to Carey-Fineman-Ziter Syndrome

Symptoms & Phenotypes for Carey-Fineman-Ziter Syndrome

Human phenotypes related to Carey-Fineman-Ziter Syndrome:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
13 aplasia/hypoplasia of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0010295
14 pierre-robin sequence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000201
15 impaired ocular abduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000634
16 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
17 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
18 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
19 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
20 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
21 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
22 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
23 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
24 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
25 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
26 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
27 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
28 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
29 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
30 ulnar deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009465
31 aplasia of the pectoralis major muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0009751
32 glandular hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000807
33 laryngeal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001602
34 global developmental delay 31 occasional (7.5%) HP:0001263
35 cataract 31 very rare (1%) HP:0000518
36 glaucoma 31 very rare (1%) HP:0000501
37 growth delay 58 31 Frequent (79-30%) HP:0001510
38 depressed nasal bridge 31 HP:0005280
39 macrocephaly 31 HP:0000256
40 flexion contracture 31 HP:0001371
41 gastroesophageal reflux 31 HP:0002020
42 failure to thrive 31 HP:0001508
43 cranial nerve paralysis 58 Frequent (79-30%)
44 dysphagia 31 HP:0002015
45 elevated serum creatine kinase 31 HP:0003236
46 feeding difficulties 31 HP:0011968
47 cryptorchidism 31 HP:0000028
48 retrognathia 31 HP:0000278
49 respiratory insufficiency 31 HP:0002093
50 motor delay 31 HP:0001270

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
poor swallowing
absent swallowing
alternating diarrhea and constipation (in 1 patient)

Muscle Soft Tissue:
myopathy
hypotonia
muscle atrophy
myopathic changes seen on emg
fatty replacement
more
Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Eyes:
ptosis
ophthalmoplegia
oculomotor nerve palsy
downslanting palpebral fissures
epicanthal folds
more
Chest External Features:
pectoralis hypoplasia

Skeletal:
joint contractures

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
thin neck

Respiratory:
respiratory insufficiency (1 patient)

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Head:
macrocephaly
microcephaly
plagiocephaly

Growth Other:
failure to thrive
growth delay

Head And Neck Mouth:
cleft palate
glossoptosis
hypoglossia
limited mouth opening

Head And Neck Face:
retrognathia
micrognathia
facial palsy
mandibular hypoplasia
facial muscle weakness
more
Head And Neck Nose:
broad nasal tip
upturned nose
flat nasal root

Neurologic Central Nervous System:
delayed motor development
enlarged ventricles (in some patients)
independent ambulation is achieved
intellectual disability (in some patients)
reduced white matter (in some patients)
more
Skeletal Feet:
clubfeet
distal contractures

Skeletal Hands:
tapering fingers
distal contractures

Cardiovascular Heart:
septal defects (1 patient)

Respiratory Larynx:
laryngostenosis (1 patient)

Clinical features from OMIM:

254940

UMLS symptoms related to Carey-Fineman-Ziter Syndrome:


ophthalmoplegia, facial paresis

MGI Mouse Phenotypes related to Carey-Fineman-Ziter Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 ADGRB1 ADGRB3 CACFD1 MYMK PLXND1 REV3L

Drugs & Therapeutics for Carey-Fineman-Ziter Syndrome

Search Clinical Trials , NIH Clinical Center for Carey-Fineman-Ziter Syndrome

Genetic Tests for Carey-Fineman-Ziter Syndrome

Genetic tests related to Carey-Fineman-Ziter Syndrome:

# Genetic test Affiliating Genes
1 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 29 MYMK

Anatomical Context for Carey-Fineman-Ziter Syndrome

MalaCards organs/tissues related to Carey-Fineman-Ziter Syndrome:

40
Brain, Skeletal Muscle, Cerebellum, Tongue, Adipocyte

Publications for Carey-Fineman-Ziter Syndrome

Articles related to Carey-Fineman-Ziter Syndrome:

(show all 17)
# Title Authors PMID Year
1
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 6 56 61
29560417 2018
2
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 56 6 61
28681861 2017
3
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. 6 56
7131178 1982
4
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome? 56 61
27232676 2016
5
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. 61 56
15150779 2004
6
Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome. 61 56
15150781 2004
7
The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis. 61 56
15150782 2004
8
Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs. 56 61
9934972 1999
9
Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report. 61 56
8362917 1993
10
Myomaker is a membrane activator of myoblast fusion and muscle formation. 56
23868259 2013
11
Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome. 56
15150780 2004
12
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis. 61
32333597 2020
13
Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle. 61
30016436 2018
14
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. 61
30065953 2018
15
High tolerance of and removal of cefazolin sodium in single-chamber microbial fuel cells operation. 61
29040863 2018
16
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 61
28777491 2017
17
New case of the Carey-Fineman-Ziter syndrome. 61
7856641 1994

Variations for Carey-Fineman-Ziter Syndrome

ClinVar genetic disease variations for Carey-Fineman-Ziter Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYMK NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg)SNV Pathogenic 430840 rs1131692247 9:136379871-136379871 9:133514749-133514749
2 MYMK NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser)SNV Pathogenic 430841 rs964335184 9:136384097-136384097 9:133518975-133518975
3 MYMK NM_001080483.3(MYMK):c.2T>A (p.Met1Lys)SNV Pathogenic 430842 rs1131692248 9:136389965-136389965 9:133524843-133524843
4 MYMK NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr)SNV Pathogenic 430843 rs1131692249 9:136380668-136380668 9:133515546-133515546
5 MYMK NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)SNV Pathogenic/Likely pathogenic 430839 rs137868995 9:136384124-136384124 9:133519002-133519002
6 MYMK NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)SNV Likely pathogenic 870390 9:136384090-136384090 9:133518968-133518968
7 MYMK NM_001080483.3(MYMK):c.399+5G>ASNV Uncertain significance 813960 9:136383991-136383991 9:133518869-133518869

UniProtKB/Swiss-Prot genetic disease variations for Carey-Fineman-Ziter Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MYMK p.Gly100Ser VAR_079263 rs964335184
2 MYMK p.Ile154Thr VAR_079264 rs113169224
3 MYMK p.Cys185Arg VAR_079265 rs113169224

Expression for Carey-Fineman-Ziter Syndrome

Search GEO for disease gene expression data for Carey-Fineman-Ziter Syndrome.

Pathways for Carey-Fineman-Ziter Syndrome

GO Terms for Carey-Fineman-Ziter Syndrome

Cellular components related to Carey-Fineman-Ziter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.02 PLXND1 PGAP6 MYMK ADGRB3 ADGRB1
2 collagen trimer GO:0005581 8.96 C1QL4 C1QL2

Biological processes related to Carey-Fineman-Ziter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.16 MYMK ADGRB1
2 positive regulation of synapse assembly GO:0051965 8.96 ADGRB3 ADGRB1
3 myoblast fusion GO:0007520 8.62 MYMK ADGRB3

Sources for Carey-Fineman-Ziter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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