MEHM
MCID: MND027
MIFTS: 20

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 57 72
Macroblepharon, Ectropion, Hypertelorism, and Macrostomia; Mehm 57
Mandibulofacial Dysostosis-Macroblepharon-Macrostomia Syndrome 59
Macroblepharon-Ectropion-Hypertelorism-Macrostomia Syndrome 59
Macroblepharon, Ectropion, Hypertelorism, and Macrostomia 57
Verloes-Lesenfants Syndrome 57
Mehm 57

Characteristics:

Orphanet epidemiological data:

59
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
two patients reported (last curated may 2013)


HPO:

32
mandibulofacial dysostosis with macroblepharon and macrostomia:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 602562
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1865181
Orphanet 59 ORPHA357158
MedGen 42 C1865181
UMLS 72 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 bone and eye, and related phenotypes are hypertelorism and corneal opacity

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
6 rare surgical neurologic disease 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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 corneal opacity 32 HP:0007957
3 wide nasal bridge 32 HP:0000431
4 microtia 32 HP:0008551
5 smooth philtrum 32 HP:0000319
6 anteverted nares 32 HP:0000463
7 thick eyebrow 32 HP:0000574
8 long philtrum 32 HP:0000343
9 micrognathia 32 HP:0000347
10 flat face 32 HP:0012368
11 recurrent otitis media 32 HP:0000403
12 keratitis 32 HP:0000491
13 wide mouth 32 HP:0000154
14 downslanted palpebral fissures 32 HP:0000494
15 round face 32 HP:0000311
16 conjunctivitis 32 HP:0000509
17 long palpebral fissure 32 HP:0000637
18 large fontanelles 32 HP:0000239
19 synophrys 32 HP:0000664
20 ectropion 32 HP:0000656
21 posteriorly rotated ears 32 HP:0000358
22 oligodontia 32 HP:0000677
23 mandibulofacial dysostosis 32 HP:0005321

Symptoms via clinical synopsis from OMIM:

57
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
long philtrum
micrognathia
flat face
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:

41
Bone, Eye

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. 38 8
9018413 1997
2
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome. 8
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 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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