MCID: CRY032
MIFTS: 35

Carey-Fineman-Ziter Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Carey-Fineman-Ziter Syndrome

MalaCards integrated aliases for Carey-Fineman-Ziter Syndrome:

Name: Carey-Fineman-Ziter Syndrome 57 12 53 59 75 37
Cfzs 57 53 75
Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 57 75
Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences 53 73
Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 53 6
Myopathy-Moebius-Robin Syndrome 53 59
Cfz Syndrome 53 75
Congenital Non-Progressive Myopathy with Moebius and Robin Sequences 75
Moebius Sequence, Robin Complex, and Hypotonia 53
Carey Fineman Ziter Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
carey-fineman-ziter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive


HPO:

32
carey-fineman-ziter syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carey-Fineman-Ziter Syndrome

OMIM : 57 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 high palate and ptosis

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

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 10.6
2 moebius syndrome 10.4
3 myopathy, congenital 10.4
4 ankylosis 10.4
5 isolated pierre robin sequence 10.4
6 hypotonia 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

Human phenotypes related to Carey-Fineman-Ziter Syndrome:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 facial palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0010628
8 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
9 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
10 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
13 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
14 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
15 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
16 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
17 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
18 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
19 growth delay 59 32 Frequent (79-30%) HP:0001510
20 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
21 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
22 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
23 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
24 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
25 hypertensive crisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100735
26 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
27 ulnar deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009465
28 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
29 aplasia/hypoplasia of the tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0010295
30 aplasia of the pectoralis major muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0009751
31 pierre-robin sequence 59 32 hallmark (90%) Very frequent (99-80%) HP:0000201
32 impaired ocular abduction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000634
33 glandular hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000807
34 laryngeal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001602
35 macrocephaly 32 HP:0000256
36 failure to thrive 32 HP:0001508
37 dysphagia 32 HP:0002015
38 respiratory insufficiency 32 HP:0002093
39 global developmental delay 32 occasional (7.5%) HP:0001263
40 depressed nasal bridge 32 HP:0005280
41 flexion contracture 32 HP:0001371
42 gastroesophageal reflux 32 HP:0002020
43 cranial nerve paralysis 59 Frequent (79-30%)
44 feeding difficulties 32 HP:0011968
45 retrognathia 32 HP:0000278
46 decreased fetal movement 32 HP:0001558
47 trismus 32 HP:0000211
48 plagiocephaly 32 HP:0001357
49 tapered finger 32 HP:0001182
50 ophthalmoplegia 32 HP:0000602

UMLS symptoms related to Carey-Fineman-Ziter Syndrome:


ophthalmoplegia, facial paresis

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 MYMK 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:

41
Brain, Tongue, Skeletal Muscle, Cerebellum

Publications for Carey-Fineman-Ziter Syndrome

Articles related to Carey-Fineman-Ziter Syndrome:

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

Variations for Carey-Fineman-Ziter Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 MYMK p.Gly100Ser VAR_079263 rs964335184
2 MYMK p.Ile154Thr VAR_079264
3 MYMK p.Cys185Arg VAR_079265

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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