MCID: CHR159
MIFTS: 25

Charlie M Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Charlie M Syndrome

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: 1406Disease definitionCharlie 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 Affiliated tissues include bone, 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 10.1

Symptoms & Phenotypes for Charlie M Syndrome

Human phenotypes related to Charlie M Syndrome:

59 32 (show all 16)
# 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 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
4 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
7 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
8 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
9 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
10 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
11 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
12 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
13 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
14 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
15 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
16 abnormal toenail morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0008388

UMLS symptoms related to Charlie M Syndrome:


palatal weakness

Drugs & Therapeutics for Charlie M Syndrome

Search Clinical Trials , 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

Publications for Charlie M Syndrome

Articles related to Charlie M Syndrome:

(show all 26)
# Title Authors Year
1
Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America. ( 29153254 )
2018
2
Möbius syndrome with cardiac rhabdomyomas. ( 29336632 )
2018
3
Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies. ( 29533695 )
2018
4
Long-Term Outcomes of Smile Reconstruction in Möbius Syndrome. ( 29579019 )
2018
5
Möbius syndrome: clinico-radiologic correlation. ( 30069750 )
2018
6
Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome. ( 30213206 )
2018
7
Rare features associated with Mobius syndrome: Report of two cases. ( 28413599 )
2017
8
Mobius Syndrome: A 35-Year Single Institution Experience. ( 28538051 )
2017
9
A congenital cranial dysinnervation disorder: Möbius' syndrome. ( 29062251 )
2017
10
Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for Möbius Syndrome. ( 29156061 )
2017
11
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. ( 27132808 )
2016
12
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study. ( 26977161 )
2016
13
Möbius syndrome. ( 27695248 )
2016
14
Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence. ( 26167228 )
2015
15
Möbius Syndrome: Comprehensive Assessment of Facial Palsy and Oculomotor Deficits With Magnetic Resonance Imaging. ( 26341672 )
2015
16
Training in Compensatory Strategies Enhances Rapport in Interactions Involving People with Möbius Syndrome. ( 26500605 )
2015
17
The etiology of möbius syndrome: a social problem? ( 25992096 )
2014
18
Möbius syndrome: misoprostol use and speech and language characteristics. ( 25992099 )
2014
19
Möbius syndrome and epilepsy. ( 20381864 )
2010
20
Use of misoprostol during pregnancy and Möbius' syndrome in infants. ( 9841330 )
1998
21
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. ( 8872479 )
1996
22
Möbius syndrome: evidence for a vascular etiology. ( 8409269 )
1993
23
Möbius syndrome. Neuropathologic observations. ( 506685 )
1979
24
Genetics of Möbius syndrome. ( 604491 )
1977
25
Möbius syndrome with Poland's anomaly. ( 4351696 )
1973
26
The Möbius syndrome. ( 13052617 )
1953

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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