CFZS
MCID: CRY032
MIFTS: 37

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 58 12 54 60 76 38 15
Cfzs 58 54 76
Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 58 76
Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences 54 74
Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 54 6
Myopathy-Moebius-Robin Syndrome 54 60
Cfz Syndrome 54 76
Congenital Non-Progressive Myopathy with Moebius and Robin Sequences 76
Moebius Sequence, Robin Complex, and Hypotonia 54
Carey Fineman Ziter Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
carey-fineman-ziter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
carey-fineman-ziter syndrome:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carey-Fineman-Ziter Syndrome

OMIM : 58 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 cfzs, is related to myopathy 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, tongue and skeletal muscle, and related phenotypes are ptosis and muscular hypotonia

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 : 54 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 geneMYMK 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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

Diseases related to Carey-Fineman-Ziter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy 10.7
2 moebius syndrome 10.6
3 myopathy, congenital 10.6
4 myopathy, congenital, bailey-bloch 10.6
5 muscle hypertrophy 10.6
6 ankylosis 10.6
7 isolated pierre robin sequence 10.6
8 hypotonia 10.6
9 physical disorder 9.5 SHH STAC3

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:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 facial palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0010628
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
7 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
9 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
10 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
12 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
13 aplasia/hypoplasia of the tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0010295
14 pierre-robin sequence 60 33 hallmark (90%) Very frequent (99-80%) HP:0000201
15 impaired ocular abduction 60 33 hallmark (90%) Very frequent (99-80%) HP:0000634
16 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
17 intellectual disability 60 33 occasional (7.5%) Frequent (79-30%) HP:0001249
18 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
19 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
20 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
21 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
22 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
23 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
24 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
25 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
26 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
27 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
28 hypertensive crisis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100735
29 ulnar deviation of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009465
30 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
31 aplasia of the pectoralis major muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0009751
32 glandular hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000807
33 laryngeal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001602
34 global developmental delay 33 occasional (7.5%) HP:0001263
35 cataract 33 very rare (1%) HP:0000518
36 glaucoma 33 very rare (1%) HP:0000501
37 growth delay 60 33 Frequent (79-30%) HP:0001510
38 macrocephaly 33 HP:0000256
39 failure to thrive 33 HP:0001508
40 dysphagia 33 HP:0002015
41 respiratory insufficiency 33 HP:0002093
42 depressed nasal bridge 33 HP:0005280
43 flexion contracture 33 HP:0001371
44 gastroesophageal reflux 33 HP:0002020
45 cranial nerve paralysis 60 Frequent (79-30%)
46 feeding difficulties 33 HP:0011968
47 retrognathia 33 HP:0000278
48 motor delay 33 HP:0001270
49 ophthalmoplegia 33 HP:0000602
50 broad nasal tip 33 HP:0000455

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
microcephaly
plagiocephaly

Growth Other:
failure to thrive
growth delay

Head And Neck Face:
facial palsy
micrognathia
retrognathia
mandibular hypoplasia
facial muscle weakness
more
Muscle Soft Tissue:
myopathy
hypotonia
muscle atrophy
fatty replacement
congenital fiber-type disproportion seen on muscle biopsy
more
Genitourinary External Genitalia Male:
cryptorchidism

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)

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Eyes:
ptosis
ophthalmoplegia
oculomotor nerve palsy
downslanting palpebral fissures
epicanthal folds
more
Skeletal Spine:
scoliosis

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

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

Head And Neck Nose:
broad nasal tip
upturned nose
flat nasal root

Skeletal:
joint contractures

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
thin neck

Respiratory:
respiratory insufficiency (1 patient)

Chest External Features:
pectoralis hypoplasia

Clinical features from OMIM:

254940

UMLS symptoms related to Carey-Fineman-Ziter Syndrome:


ophthalmoplegia, facial paresis

GenomeRNAi Phenotypes related to Carey-Fineman-Ziter Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.1 STAC3
2 Decreased viability GR00221-A-3 9.1 SHH STAC3
3 Decreased viability GR00221-A-4 9.1 STAC3
4 Decreased viability GR00402-S-2 9.1 SHH STAC3

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 MYMK SHH STAC3
2 skeleton MP:0005390 8.8 MYMK SHH STAC3

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

Anatomical Context for Carey-Fineman-Ziter Syndrome

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

42
Brain, Tongue, Skeletal Muscle, Cerebellum

Publications for Carey-Fineman-Ziter Syndrome

Articles related to Carey-Fineman-Ziter Syndrome:

(show all 11)
# Title Authors Year
1
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. ( 29560417 )
2018
2
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. ( 30065953 )
2018
3
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. ( 28681861 )
2017
4
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. ( 28777491 )
2017
5
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome? ( 27232676 )
2016
6
The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis. ( 15150782 )
2004
7
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. ( 15150779 )
2004
8
Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome. ( 15150781 )
2004
9
New case of the Carey-Fineman-Ziter syndrome. ( 7856641 )
1994
10
Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report. ( 8362917 )
1993
11
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. ( 7131178 )
1982

Variations for Carey-Fineman-Ziter Syndrome

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYMK NM_001080483.2(MYMK): c.271C> A (p.Pro91Thr) single nucleotide variant Pathogenic rs137868995 GRCh37 Chromosome 9, 136384124: 136384124
2 MYMK NM_001080483.2(MYMK): c.271C> A (p.Pro91Thr) single nucleotide variant Pathogenic rs137868995 GRCh38 Chromosome 9, 133519002: 133519002
3 MYMK NM_001080483.2(MYMK): c.553T> C (p.Cys185Arg) single nucleotide variant Pathogenic rs1131692247 GRCh37 Chromosome 9, 136379871: 136379871
4 MYMK NM_001080483.2(MYMK): c.553T> C (p.Cys185Arg) single nucleotide variant Pathogenic rs1131692247 GRCh38 Chromosome 9, 133514749: 133514749
5 MYMK NM_001080483.2(MYMK): c.298G> A (p.Gly100Ser) single nucleotide variant Pathogenic rs964335184 GRCh37 Chromosome 9, 136384097: 136384097
6 MYMK NM_001080483.2(MYMK): c.298G> A (p.Gly100Ser) single nucleotide variant Pathogenic rs964335184 GRCh38 Chromosome 9, 133518975: 133518975
7 MYMK NM_001080483.2(MYMK): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs1131692248 GRCh37 Chromosome 9, 136389965: 136389965
8 MYMK NM_001080483.2(MYMK): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs1131692248 GRCh38 Chromosome 9, 133524843: 133524843
9 MYMK NM_001080483.2(MYMK): c.461T> C (p.Ile154Thr) single nucleotide variant Pathogenic rs1131692249 GRCh38 Chromosome 9, 133515546: 133515546
10 MYMK NM_001080483.2(MYMK): c.461T> C (p.Ile154Thr) single nucleotide variant Pathogenic rs1131692249 GRCh37 Chromosome 9, 136380668: 136380668

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

Sources for Carey-Fineman-Ziter Syndrome

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