MCID: CHR159
MIFTS: 23

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 53 59
Mobius Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
charlie m syndrome
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.0
Orphanet 59 ORPHA1406
UMLS 72 C0221060

Summaries for Charlie M Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1406DefinitionCharlie 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 finger syndactyly

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
5 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
6 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
7 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
8 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
9 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
10 abnormal toenail morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0008388
11 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
12 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
15 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
16 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
17 abnormality of the fingernails 59 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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Misoprostol Approved Phase 4 59122-46-2 5282381
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
leucovorin Approved Phase 4 58-05-9 143 6006
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Folic Acid Antagonists Phase 4
6 Gastrointestinal Agents Phase 4
7 Vitamin B9 Phase 4
8 Oxytocics Phase 4
9 Immunosuppressive Agents Phase 4
10 Vitamin B Complex Phase 4
11 Immunologic Factors Phase 4
12 Folate Phase 4
13 Antacids Phase 4
14 Nucleic Acid Synthesis Inhibitors Phase 4
15 Dermatologic Agents Phase 4
16 Anti-Ulcer Agents Phase 4
17 Antimetabolites Phase 4
18 Antimetabolites, Antineoplastic Phase 4
19 Antirheumatic Agents 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 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
5 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Recruiting NCT02055248

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:

41
Bone, Eye

Publications for Charlie M Syndrome

Articles related to Charlie M Syndrome:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome. 38
30213206 2019
2
Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies. 38
29533695 2018
3
[Four cases of Mobius syndrome]. 38
30180412 2018
4
Mobius Syndrome: A 35-Year Single Institution Experience. 38
28538051 2017
5
Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve. 38
28345573 2017
6
Rare features associated with Mobius syndrome: Report of two cases. 38
28413599 2017
7
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. 38
27132808 2016
8
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study. 38
26977161 2016
9
Mobius syndrome and poland syndrome presenting together in a single patient. 38
25834693 2015
10
Genetics of strabismus and lid diseases. 38
27625884 2014
11
[Eye and systemic manifestations of Mobius syndrome]. 38
24581746 2014
12
A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain. 38
23803678 2013
13
[Mobius syndrome]. 38
23755520 2012
14
A neonate with Poland-Mobius syndrome. 38
22015131 2011
15
Poland-Mobius syndrome in an infant girl. 38
19847089 2009
16
Hepatotoxicity after desflurane anesthesia in a 15-month-old child with Mobius syndrome after previous exposure to isoflurane. 38
18073559 2007
17
[One case of Mobius syndrome]. 38
17628989 2007
18
Early dental management of patients with Mobius syndrome. 38
17054764 2006
19
Congenital unilateral multiple cranial neuropathy: an etiology shared with Mobius syndrome? 38
16229900 2006
20
A case of Mobius syndrome--radiological and electrophysiological findings. 38
15925414 2005
21
[Neonatal Mobius syndrome]. 38
16083567 2005
22
The spectrum of Mobius syndrome: an electrophysiological study. 38
15829555 2005
23
Cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with meningoencephalocele. 38
16001385 2005
24
Upper labial deficiency in Mobius syndrome: a previously unreported feature and its correction. 38
14663218 2003
25
Twenty-year behavioral follow-up of a 1;13 chromosomal translocation and Mobius syndrome presenting with poor impulse control, exhibitionism, and aggression. 38
14610724 2003
26
Mobius syndrome: a dental hygiene case study and review of the literature. 38
16451548 2003
27
Mobius syndrome: a case report. 38
11874016 2002
28
Mobius syndrome associated with ventricular septal defect. 38
11407163 2001
29
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. 38
10830911 2000
30
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome. 38
10798354 2000
31
Facial expression recognition by people with mobius syndrome. 38
20945172 2000
32
The möbius sequence: a relook. 38
10477221 1999
33
Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band. 38
9849371 1998
34
A parasomnia overlap disorder involving sleepwalking, sleep terrors, and REM sleep behavior disorder in 33 polysomnographically confirmed cases. 38
9456462 1997
35
Mobius syndrome: electrophysiologic studies in seven cases. 38
8761272 1996
36
Obstructive sleep apnoea presenting as failure to thrive in infancy. 38
7669373 1995
37
Neonatal facial nerve defect. 38
8128879 1994
38
Behavior management of a patient with Mobius syndrome: report of case. 38
8432950 1993
39
Mobius syndrome with basal ganglia calcification. 38
1642115 1992
40
[Mobius syndrome: report of a case]. 38
3506296 1987
41
Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate. 38
6951660 1982
42
[The "Charlie M." syndrome: a new clinical entity? Description of a case]. 38
6779104 1980
43
Mobius syndrome and Poland anomaly: case report and review of the literature. 38
521879 1979
44
Congenital facial diplegia (Mobius syndrome) and diabetes insipidus: case report. 38
106335 1979
45
Mobius syndrome and limb abnormalities. 38
915640 1977
46
[Mobius' syndrome]. 38
847997 1977
47
A "community" of face-limb malformation syndromes. 38
940017 1976
48
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. 38
1261566 1976
49
[Mobius' syndrome. Congenital facial diplegia. Congenital bulbar paralysis]. 38
1145811 1975
50
[Surgical treatment of dysgnathia in Mobius' syndrome]. 38
4534098 1974

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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