MCID: CHR159
MIFTS: 23

Charlie M Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Charlie M Syndrome

Summaries for Charlie M Syndrome

NIH Rare Diseases : 54 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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231
5 non-midline cleft lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0100335
6 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
7 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
8 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
9 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
10 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
11 abnormal toenail morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0008388
12 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
13 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
14 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
15 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
16 triphalangeal thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001199

UMLS symptoms related to Charlie M Syndrome:


palatal weakness

Drugs & Therapeutics for Charlie M Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Study on Moebius Syndrome and Congenital Facial Weakness Disorders Recruiting NCT02055248
4 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:

42
Bone

Publications for Charlie M Syndrome

Articles related to Charlie M Syndrome:

(show all 20)
# Title Authors Year
1
Segmental Gracilis Muscle Transplantation for Midfacial Animation in Möbius Syndrome: A 29-Year Experience. ( 30817662 )
2019
2
Möbius syndrome associated with obesity and precocious puberty. ( 30567196 )
2018
3
Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America. ( 29153254 )
2018
4
Möbius syndrome with cardiac rhabdomyomas. ( 29336632 )
2018
5
Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies. ( 29533695 )
2018
6
Long-Term Outcomes of Smile Reconstruction in Möbius Syndrome. ( 29579019 )
2018
7
Möbius syndrome: clinico-radiologic correlation. ( 30069750 )
2018
8
Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome. ( 30213206 )
2018
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
Rare features associated with Mobius syndrome: Report of two cases. ( 28413599 )
2017
12
Mobius Syndrome: A 35-Year Single Institution Experience. ( 28538051 )
2017
13
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. ( 27132808 )
2016
14
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study. ( 26977161 )
2016
15
Möbius syndrome. ( 27695248 )
2016
16
Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence. ( 26167228 )
2015
17
Möbius Syndrome: Comprehensive Assessment of Facial Palsy and Oculomotor Deficits With Magnetic Resonance Imaging. ( 26341672 )
2015
18
Training in Compensatory Strategies Enhances Rapport in Interactions Involving People with Möbius Syndrome. ( 26500605 )
2015
19
The etiology of möbius syndrome: a social problem? ( 25992096 )
2014
20
Möbius syndrome: misoprostol use and speech and language characteristics. ( 25992099 )
2014

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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