MEHM
MCID: MND027
MIFTS: 21

Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (MEHM)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

MalaCards integrated aliases for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia:

Name: Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 56 71
Macroblepharon, Ectropion, Hypertelorism, and Macrostomia; Mehm 56
Mandibulofacial Dysostosis-Macroblepharon-Macrostomia Syndrome 58
Macroblepharon-Ectropion-Hypertelorism-Macrostomia Syndrome 58
Macroblepharon, Ectropion, Hypertelorism, and Macrostomia 56
Verloes-Lesenfants Syndrome 56
Mehm 56

Characteristics:

Orphanet epidemiological data:

58
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
two patients reported (last curated may 2013)


HPO:

31
mandibulofacial dysostosis with macroblepharon and macrostomia:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 602562
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1865181
Orphanet 58 ORPHA357158
MedGen 41 C1865181
UMLS 71 C1865181

Summaries for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

MalaCards based summary : Mandibulofacial Dysostosis with Macroblepharon and Macrostomia, also known as macroblepharon, ectropion, hypertelorism, and macrostomia; mehm, is related to ectropion and hypertelorism. Affiliated tissues include eye and bone, and related phenotypes are corneal opacity and hypertelorism

More information from OMIM: 602562

Related Diseases for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Diseases related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectropion 10.5
2 hypertelorism 10.5
3 macrostomia, isolated 10.5
4 dysostosis 10.5
5 head injury 10.3

Graphical network of the top 20 diseases related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia:



Diseases related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Symptoms & Phenotypes for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Human phenotypes related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 corneal opacity 31 HP:0007957
2 hypertelorism 31 HP:0000316
3 wide nasal bridge 31 HP:0000431
4 microtia 31 HP:0008551
5 smooth philtrum 31 HP:0000319
6 anteverted nares 31 HP:0000463
7 thick eyebrow 31 HP:0000574
8 flat face 31 HP:0012368
9 micrognathia 31 HP:0000347
10 recurrent otitis media 31 HP:0000403
11 wide mouth 31 HP:0000154
12 downslanted palpebral fissures 31 HP:0000494
13 long philtrum 31 HP:0000343
14 hemangioma 31 HP:0001028
15 conjunctivitis 31 HP:0000509
16 keratitis 31 HP:0000491
17 large fontanelles 31 HP:0000239
18 round face 31 HP:0000311
19 synophrys 31 HP:0000664
20 ectropion 31 HP:0000656
21 posteriorly rotated ears 31 HP:0000358
22 oligodontia 31 HP:0000677
23 long palpebral fissure 31 HP:0000637
24 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
keratitis
downslanting palpebral fissures
corneal clouding
lagophthalmos
more
Head And Neck Nose:
anteverted nares
broad nasal bridge
raised nasal bridge
wide nasal tip

Head And Neck Teeth:
oligodontia
irregularly placed teeth

Skeletal Skull:
large fontanels
broad metopic suture

Head And Neck Head:
brachycephalic

Head And Neck Face:
smooth philtrum
flat face
micrognathia
long philtrum
round face
more
Head And Neck Ears:
posteriorly rotated ears
small ears
otitis media, recurrent

Head And Neck Mouth:
macrostomia
thin, hypoplastic vermilion border

Skin Nails Hair Hair:
synophrys, mild
hypertrichosis of the eyebrows
increased density of the upper eyelid eyelashes

Cardiovascular Vascular:
capillary hemangioma on face

Clinical features from OMIM:

602562

Drugs & Therapeutics for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Genetic Tests for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Anatomical Context for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

MalaCards organs/tissues related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia:

40
Eye, Bone

Publications for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Articles related to Mandibulofacial Dysostosis with Macroblepharon and Macrostomia:

# Title Authors PMID Year
1
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. 61 56
9018413 1997
2
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome. 56
23448909 2013

Variations for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Expression for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Search GEO for disease gene expression data for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia.

Pathways for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

GO Terms for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

Sources for Mandibulofacial Dysostosis with Macroblepharon and Macrostomia

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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