Mandibulofacial dysostosis - macroblepharon - macrostomia

General Information (adopted from Orphanet):

Synonyms, Signs: VERLOES-LESENFANTS SYNDROME
MACROBLEPHARON, ECTROPION, HYPERTELORISM, AND MACROSTOMIA
MEHM
Macroblepharon - ectropion - hypertelorism - macrostomia syndrome
Number of Symptoms 36
OrphanetNr: 357158
OMIM Id: 602562
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Mandibulofacial dysostosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000664) Synophrys 112 / 7739
4
 (HPO:0000278) Retrognathia 100 / 7739
5
 (HPO:0000319) Smooth philtrum 72 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000343) Long philtrum 262 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000677) Oligodontia 41 / 7739
10
 (HPO:0000239) Large fontanelles 135 / 7739
11
 (HPO:0005321) Mandibulofacial dysostosis 7 / 7739
12
 (HPO:0000154) Wide mouth 137 / 7739
13
 (HPO:0000455) Broad nasal tip 67 / 7739
14
 (HPO:0012368) Flat face 106 / 7739
15
 (HPO:0000311) Round face 104 / 7739
16
 (HPO:0000574) Thick eyebrow 96 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0000637) Long palpebral fissure 21 / 7739
19
 (HPO:0000509) Conjunctivitis 47 / 7739
20
 (HPO:0000491) Keratitis 21 / 7739
21
 (HPO:0007957) Corneal opacity 84 / 7739
22
 (HPO:0000403) Recurrent otitis media 61 / 7739
23
 (HPO:0008551) Microtia 98 / 7739
24
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
25
 (OMIM) Thin, hypoplastic vermilion border 1 / 7739
26
 (OMIM) Ectropion of the lower lid 1 / 7739
27
 (OMIM) Corneal drying 1 / 7739
28
 (MedDRA:10023683) Lagophthalmos 2 / 7739
29
 (OMIM) Increased density of the upper eyelid eyelashes 1 / 7739
30
 (OMIM) Irregularly placed teeth 2 / 7739
31
 (OMIM) Brachycephalic 1 / 7739
32
 (OMIM) Broad metopic suture 1 / 7739
33
 (OMIM) Raised nasal bridge 1 / 7739
34
 (OMIM) Macroblepharon 1 / 7739
35
 (OMIM) Synophrys, mild 2 / 7739
36
 (OMIM) Capillary hemangioma on face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verloes and Lesenfants (1997) described a 7-year-old girl with severe hypertelorism, huge palpebral fissures, ectropion of the lower lid, broad raised nasal base, a wide nasal tip, long smooth philtrum, macrostomia, irregularly placed teeth, and micrognathia. Her intellectual ...