MCID: CHR159
MIFTS: 24

Charlie M Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Charlie M Syndrome

MalaCards integrated aliases for Charlie M Syndrome:

Name: Charlie M Syndrome 52 58
Mobius Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
charlie m syndrome
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Charlie M Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1406 Definition Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate , hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. Visit the Orphanet disease page for more resources.

MalaCards based summary : Charlie M Syndrome, also known as mobius syndrome, is related to light fixation seizure syndrome, and has symptoms including palatal weakness The drugs Misoprostol and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and narrow mouth

Related Diseases for Charlie M Syndrome

Diseases related to Charlie M Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 light fixation seizure syndrome 10.3

Symptoms & Phenotypes for Charlie M Syndrome

Human phenotypes related to Charlie M Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
6 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
7 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
8 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
9 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
10 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
11 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
12 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
13 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
14 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
15 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
16 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
17 abnormality of the fingernails 58 Very frequent (99-80%)

UMLS symptoms related to Charlie M Syndrome:


palatal weakness

Drugs & Therapeutics for Charlie M Syndrome

Drugs for Charlie M Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Misoprostol Approved Phase 4 59122-46-2 5282381
2
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
3
leucovorin Approved Phase 4 58-05-9 6006 143
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Gastrointestinal Agents Phase 4
6 Vitamin B Complex Phase 4
7 Antacids Phase 4
8 Immunologic Factors Phase 4
9 Anti-Ulcer Agents Phase 4
10 Folic Acid Antagonists Phase 4
11 Folate Phase 4
12 Dermatologic Agents Phase 4
13 Immunosuppressive Agents Phase 4
14 Antirheumatic Agents Phase 4
15 Antimetabolites Phase 4
16 Vitamin B9 Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparing Methotrexate Followed by Misoprostol to Misoprostol Alone for Early Abortion Completed NCT00129506 Phase 4 methotrexate + misoprostol;misoprostol
2 Impairments of Oral Language in Subjects With the Möbius Sequence Completed NCT00856531
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
4 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Completed NCT02055248
5 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Charlie M Syndrome

Genetic Tests for Charlie M Syndrome

Anatomical Context for Charlie M Syndrome

MalaCards organs/tissues related to Charlie M Syndrome:

40
Bone, Eye

Publications for Charlie M Syndrome

Articles related to Charlie M Syndrome:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2020
2
Mobius syndrome and obsessive compulsive disorder: a case report. 61
31488755 2019
3
Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome. 61
30213206 2019
4
Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies. 61
29533695 2018
5
[Four cases of Mobius syndrome]. 61
30180412 2018
6
Mobius Syndrome: A 35-Year Single Institution Experience. 61
28538051 2017
7
Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve. 61
28345573 2017
8
Rare features associated with Mobius syndrome: Report of two cases. 61
28413599 2017
9
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. 61
27132808 2016
10
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study. 61
26977161 2016
11
Mobius syndrome and poland syndrome presenting together in a single patient. 61
25834693 2015
12
Genetics of strabismus and lid diseases. 61
27625884 2014
13
[Eye and systemic manifestations of Mobius syndrome]. 61
24581746 2014
14
A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain. 61
23803678 2013
15
[Mobius syndrome]. 61
23755520 2012
16
A neonate with Poland-Mobius syndrome. 61
22015131 2011
17
Poland-Mobius syndrome in an infant girl. 61
19847089 2009
18
Hepatotoxicity after desflurane anesthesia in a 15-month-old child with Mobius syndrome after previous exposure to isoflurane. 61
18073559 2007
19
[One case of Mobius syndrome]. 61
17628989 2007
20
Early dental management of patients with Mobius syndrome. 61
17054764 2006
21
Congenital unilateral multiple cranial neuropathy: an etiology shared with Mobius syndrome? 61
16229900 2006
22
A case of Mobius syndrome--radiological and electrophysiological findings. 61
15925414 2005
23
[Neonatal Mobius syndrome]. 61
16083567 2005
24
The spectrum of Mobius syndrome: an electrophysiological study. 61
15829555 2005
25
Cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with meningoencephalocele. 61
16001385 2005
26
Upper labial deficiency in Mobius syndrome: a previously unreported feature and its correction. 61
14663218 2003
27
Twenty-year behavioral follow-up of a 1;13 chromosomal translocation and Mobius syndrome presenting with poor impulse control, exhibitionism, and aggression. 61
14610724 2003
28
Mobius syndrome: a dental hygiene case study and review of the literature. 61
16451548 2003
29
Mobius syndrome: a case report. 61
11874016 2002
30
Mobius syndrome associated with ventricular septal defect. 61
11407163 2001
31
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. 61
10830911 2000
32
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome. 61
10798354 2000
33
Facial expression recognition by people with mobius syndrome. 61
20945172 2000
34
The möbius sequence: a relook. 61
10477221 1999
35
Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band. 61
9849371 1998
36
A parasomnia overlap disorder involving sleepwalking, sleep terrors, and REM sleep behavior disorder in 33 polysomnographically confirmed cases. 61
9456462 1997
37
Mobius syndrome: electrophysiologic studies in seven cases. 61
8761272 1996
38
Obstructive sleep apnoea presenting as failure to thrive in infancy. 61
7669373 1995
39
Neonatal facial nerve defect. 61
8128879 1994
40
Behavior management of a patient with Mobius syndrome: report of case. 61
8432950 1993
41
Mobius syndrome with basal ganglia calcification. 61
1642115 1992
42
[Mobius syndrome: report of a case]. 61
3506296 1987
43
Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate. 61
6951660 1982
44
[The "Charlie M." syndrome: a new clinical entity? Description of a case]. 61
6779104 1980
45
Mobius syndrome and Poland anomaly: case report and review of the literature. 61
521879 1979
46
Congenital facial diplegia (Mobius syndrome) and diabetes insipidus: case report. 61
106335 1979
47
Mobius syndrome and limb abnormalities. 61
915640 1977
48
[Mobius' syndrome]. 61
847997 1977
49
A "community" of face-limb malformation syndromes. 61
940017 1976
50
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. 61
1261566 1976

Variations for Charlie M Syndrome

Expression for Charlie M Syndrome

Search GEO for disease gene expression data for Charlie M Syndrome.

Pathways for Charlie M Syndrome

GO Terms for Charlie M Syndrome

Sources for Charlie M 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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