MCID: HMF009
MIFTS: 53

Hemifacial Hyperplasia

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hemifacial Hyperplasia

MalaCards integrated aliases for Hemifacial Hyperplasia:

Name: Hemifacial Hyperplasia 57 59
Facial Asymmetry 57 29 6
Hemifacial Hypertrophy 57 59
Facial Hemihypertrophy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hemifacial hyperplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 133900
Orphanet 59 ORPHA141145
ICD10 via Orphanet 34 Q67.4
UMLS via Orphanet 74 C1399354
MedGen 42 C1399354
ICD10 33 Q67.0

Summaries for Hemifacial Hyperplasia

OMIM : 57 The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962). (133900)

MalaCards based summary : Hemifacial Hyperplasia, also known as facial asymmetry, is related to saethre-chotzen syndrome and plagiocephaly. An important gene associated with Hemifacial Hyperplasia is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Developmental Biology and mTOR signalling. Affiliated tissues include bone, eye and skin, and related phenotypes are dental malocclusion and hypoplasia of the maxilla

Wikipedia : 76 Hemifacial hypertrophy (also termed facial hemihypertrophy,facial hemihyperplasia, or Friedreich''s... more...

Related Diseases for Hemifacial Hyperplasia

Diseases related to Hemifacial Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 31.2 FGFR3 FGFR2
2 plagiocephaly 30.1 FGFR3 FGFR2
3 synostosis 29.8 FGFR3 FGFR2 EFNB1
4 radioulnar synostosis 29.6 FGFR3 FGFR2
5 strabismus 29.5 FGFR3 FGFR2
6 hemifacial hyperplasia with strabismus 12.6
7 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 12.3
8 facial asymmetry temporal seizures 12.3
9 mehes syndrome 11.9
10 diploid-triploid mosaicism 11.7
11 jorgenson lenz syndrome 11.5
12 craniofacial microsomia 11.4
13 torticollis 11.3
14 hemifacial microsomia 11.3
15 hemifacial microsomia with radial defects 11.3
16 silent sinus syndrome 11.3
17 elsahy-waters syndrome 11.2
18 klippel-feil syndrome 11.2
19 mental retardation, x-linked, syndromic, snyder-robinson type 11.1
20 oculoauriculofrontonasal syndrome 11.1
21 syndromic x-linked intellectual disability snyder type 11.1
22 fourth cranial nerve palsy, familial congenital 10.9
23 johnson neuroectodermal syndrome 10.9
24 microcephaly-deafness syndrome 10.9
25 schilbach-rott syndrome 10.9
26 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 10.9
27 aicardi-goutieres syndrome 1 10.9
28 aicardi syndrome 10.9
29 focal dermal hypoplasia 10.9
30 orofaciodigital syndrome i 10.9
31 frias syndrome 10.9
32 vacterl association 10.9
33 auriculo-condylar syndrome 10.9
34 ring chromosome 7 10.9
35 rozin hertz goodman syndrome 10.9
36 cleft lip 10.4
37 cleft lip/palate 10.3
38 ankylosis 10.3
39 facial paralysis 10.2
40 nevus, epidermal 10.1
41 osteochondroma 10.1
42 arthritis 10.0
43 facial hemiatrophy 10.0
44 epilepsy 10.0
45 congenital torticollis 10.0
46 lipomatosis 10.0
47 lacrimal duct defect 9.9
48 dubowitz syndrome 9.9
49 temporomandibular ankylosis 9.9
50 body dysmorphic disorder 9.9

Graphical network of the top 20 diseases related to Hemifacial Hyperplasia:



Diseases related to Hemifacial Hyperplasia

Symptoms & Phenotypes for Hemifacial Hyperplasia

Symptoms via clinical synopsis from OMIM:

57
Facies:
maxillary hypoplasia
mandibular asymmetry

Teeth:
malocclusion


Clinical features from OMIM:

133900

Human phenotypes related to Hemifacial Hyperplasia:

32
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 32 HP:0000689
2 hypoplasia of the maxilla 32 HP:0000327
3 facial asymmetry 32 HP:0000324

GenomeRNAi Phenotypes related to Hemifacial Hyperplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
2 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Hemifacial Hyperplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.58 EFNB1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.54 EFNB1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.5 EFNB1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.43 EFNB1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.33 EFNB1 FGFR2 FGFR3
6 respiratory system MP:0005388 9.13 EFNB1 FGFR2 FGFR3
7 vision/eye MP:0005391 8.8 EFNB1 FGFR2 FGFR3

Drugs & Therapeutics for Hemifacial Hyperplasia

Search Clinical Trials , NIH Clinical Center for Hemifacial Hyperplasia

Genetic Tests for Hemifacial Hyperplasia

Genetic tests related to Hemifacial Hyperplasia:

# Genetic test Affiliating Genes
1 Facial Asymmetry 29

Anatomical Context for Hemifacial Hyperplasia

MalaCards organs/tissues related to Hemifacial Hyperplasia:

41
Bone, Eye, Skin, Temporal Lobe, Colon, Tongue, Lung

Publications for Hemifacial Hyperplasia

Articles related to Hemifacial Hyperplasia:

(show top 50) (show all 468)
# Title Authors Year
1
Orthognathic treatment of facial asymmetry due to temporomandibular joint ankylosis. ( 29076326 )
2018
2
Association of Involutional Lower Eyelid Entropion with Reduced Upper Eyelid Position Relative to the Corneal Light Reflex: Quantification of Facial Asymmetry. ( 29342029 )
2018
3
Facial asymmetry correction with moulded helmet therapy in infants with deformational skull base plagiocephaly. ( 29221913 )
2018
4
Assessment of facial asymmetry before and after the surgical repair of cleft lip in unilateral cleft lip and palate cases. ( 28967531 )
2018
5
Congenital hemifacial hyperplasia. ( 29402434 )
2018
6
Three-dimensional Photogrammetric Analysis of Facial Soft-to-Hard Tissue Ratios After Bimaxillary Surgery in Facial Asymmetry Patients With and Without Sturge-Weber Syndrome. ( 29794508 )
2018
7
Role of extra oral monofocal distractor device in the correction of the facial asymmetry, sleep apnoea, and quality of life associated with TMJ ankylosis. ( 30513389 )
2018
8
Conscious Perception of Facial Asymmetry in a Unilateral Cleft Lip Model: Body Dysmorphic Disorder Is an Exclusion Criterion. ( 30223679 )
2018
9
Longitudinal 3D Assessment of Facial Asymmetry in Unilateral Cleft Lip and Palate. ( 29870280 )
2018
10
Conscious Perception of Facial Asymmetry in a Unilateral Cleft Lip Model. ( 29351035 )
2018
11
Three-dimensional evaluation of facial asymmetry in patients with hemifacial microsomia using stereophotogrammetry. ( 30527381 )
2018
12
Botulinum toxin therapy of hemifacial spasm: bilateral injections can reduce facial asymmetry. ( 29987587 )
2018
13
Cone-beam computed tomography analysis of transverse dental compensation in patients with skeletal Class III malocclusion and facial asymmetry. ( 30450328 )
2018
14
Comparison of temporomandibular joint shape and size in patients with facial asymmetry. ( 30484201 )
2018
15
Surgery-First Orthognathic Surgery for Severe Facial Asymmetry Combined With Mandibular Distraction Osteogenesis Using a Three-Dimensional Internal Distractor. ( 30507886 )
2018
16
The Relationship between Age and Facial Asymmetry. ( 30511968 )
2018
17
Dentoskeletal parameters related to visual perception of facial asymmetry in patients with skeletal class III malocclusion after orthognathic surgery. ( 28822677 )
2018
18
Enhanced Surgical Outcomes in Patients With Skeletal Class III Facial Asymmetry by 3-Dimensional Surgical Simulation. ( 29031529 )
2018
19
Facial asymmetry in the resting state reflects anxiety status on young males. ( 29098936 )
2018
20
Plane-to-plane analysis of mandibular misalignment in patients with facial asymmetry. ( 29287657 )
2018
21
The Individualized Facelift Technique in Improving Facial Asymmetry for Asian Patients. ( 29373407 )
2018
22
No association between types of unilateral mandibular condylar abnormalities and facial asymmetry in orthopedic-treated patients with juvenile idiopathic arthritis. ( 29407498 )
2018
23
Facial Asymmetry: Brow and Ear Position. ( 29466811 )
2018
24
Corrigendum: Association between intraoral pressure and molar position and inclination in subjects with facial asymmetry. ( 29471515 )
2018
25
Corrective outcome and transverse stability after orthognathic surgery using a surgery-first approach in mandibular prognathism with and without facial asymmetry. ( 29545077 )
2018
26
Reconstruction of Complex Facial Asymmetry: Problems and Refinements. ( 29554068 )
2018
27
Facial asymmetry revisited: Part I- diagnosis and treatment planning. ( 29556456 )
2018
28
Facial asymmetry revisited: Part II-Conceptualizing the management. ( 29556457 )
2018
29
Collaborative treatment for a case of condylar hyperplastic facial asymmetry. ( 29561653 )
2018
30
A three-dimensional analysis of skeletal and dental characteristics in skeletal class III patients with facial asymmetry. ( 29562577 )
2018
31
Comparison of the three-dimensional structures of mandibular condyles between adults with and without facial asymmetry: A retrospective study. ( 29564216 )
2018
32
Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty. ( 29605363 )
2018
33
Does two-dimensional vs. three-dimensional surgical simulation produce better surgical outcomes among patients with class III facial asymmetry? ( 29606563 )
2018
34
Facial Asymmetry-Based Age Group Estimation: Role in Recognizing Age-Separated Face Images. ( 29684935 )
2018
35
Evaluation of facial asymmetry in patients with juvenile idiopathic arthritis: Correlation between hard tissue and soft tissue landmarks. ( 29706214 )
2018
36
Three-dimensional computed tomography analysis of mandibular morphology in patients with facial asymmetry and mandibular retrognathism. ( 29706216 )
2018
37
Geometric Evaluation of the Effect of Prosthetic Rehabilitation on Facial Asymmetry in Patients with Unilateral Maxillectomy. ( 29723316 )
2018
38
An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment. ( 29750572 )
2018
39
Three-dimensional changes of proximal segments in facial asymmetry patients after bilateral vertical ramus osteotomy. ( 29776719 )
2018
40
Lip Morphology in Patients With Facial Asymmetry Can Be Corrected by 2-Jaw Surgery. ( 29787702 )
2018
41
The influence of bilateral sagittal split ramus osteotomy on the stress distributions in the temporomandibular joints of the patients with facial asymmetry under symmetric occlusions. ( 29924045 )
2018
42
Comparative Assessment of Facial Asymmetry in Malocclusion using Posteroanterior View. ( 29959301 )
2018
43
3D follow-up study of facial asymmetry after developmental dysplasia of the hip. ( 29971961 )
2018
44
Facial Asymmetry Index: Validation and Applications in Various Smile Restoration Techniques. ( 30041270 )
2018
45
The puzzle of facial asymmetry. ( 30048953 )
2018
46
Digital platform for planning facial asymmetry orthodontic-surgical treatment preparation. ( 30088569 )
2018
47
Three-dimensional Analysis and Evaluation in Orthognathic Surgical Cases with Facial Asymmetry. ( 30224609 )
2018
48
Morphological study of the changes after sagittal split ramus osteotomy in patients with facial asymmetry: measurements of 3-dimensional modelling. ( 30391085 )
2018
49
Comparison of changes in the transverse dental axis between patients with skeletal Class III malocclusion and facial asymmetry treated by orthognathic surgery with and without presurgical orthodontic treatment. ( 28670567 )
2017
50
Targeted presurgical decompensation in patients with yaw-dependent facial asymmetry. ( 28523246 )
2017

Variations for Hemifacial Hyperplasia

ClinVar genetic disease variations for Hemifacial Hyperplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
2 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh38 Chromosome 10, 121517363: 121517363
3 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
4 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
5 PIK3CA NM_006218.3(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 GRCh38 Chromosome 3, 179203801: 179203801
6 PIK3CA NM_006218.3(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 GRCh37 Chromosome 3, 178921589: 178921589
7 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh38 Chromosome 19, 10991262: 10991262
8 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh37 Chromosome 19, 11101938: 11101938
9 EFNB1 GRCh37/hg19 Xq13.1(chrX: 68058460-68059931) copy number loss Pathogenic GRCh37 Chromosome X, 68058460: 68059931

Expression for Hemifacial Hyperplasia

Search GEO for disease gene expression data for Hemifacial Hyperplasia.

Pathways for Hemifacial Hyperplasia

Pathways related to Hemifacial Hyperplasia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 EFNB1 FGFR2 FGFR3
2
Show member pathways
11.95 FGFR2 FGFR3
3
Show member pathways
11.94 FGFR2 FGFR3
4 11.92 FGFR2 FGFR3
5
Show member pathways
11.8 FGFR2 FGFR3
6
Show member pathways
11.73 FGFR2 FGFR3
7
Show member pathways
11.66 FGFR2 FGFR3
8 11.65 FGFR2 FGFR3
9 11.55 FGFR2 FGFR3
10 11.38 FGFR2 FGFR3
11 11.3 EFNB1 FGFR2 FGFR3
12 11.13 FGFR2 FGFR3
13 10.91 FGFR2 FGFR3
14 10.78 FGFR2 FGFR3
15 10.75 EFNB1 FGFR2 FGFR3
16 10.58 FGFR2 FGFR3

GO Terms for Hemifacial Hyperplasia

Cellular components related to Hemifacial Hyperplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.96 FGFR2 FGFR3
2 integral component of plasma membrane GO:0005887 8.8 EFNB1 FGFR2 FGFR3

Biological processes related to Hemifacial Hyperplasia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.65 EFNB1 FGFR2 FGFR3
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.57 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.56 FGFR2 FGFR3
4 protein autophosphorylation GO:0046777 9.55 FGFR2 FGFR3
5 positive regulation of protein kinase B signaling GO:0051897 9.54 FGFR2 FGFR3
6 positive regulation of MAPK cascade GO:0043410 9.52 FGFR2 FGFR3
7 negative regulation of signal transduction GO:0009968 9.51 FGFR2 FGFR3
8 phosphatidylinositol phosphorylation GO:0046854 9.49 FGFR2 FGFR3
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 FGFR2 FGFR3
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGFR2 FGFR3
11 cell-cell signaling GO:0007267 9.43 EFNB1 FGFR2 FGFR3
12 bone mineralization GO:0030282 9.4 FGFR2 FGFR3
13 bone morphogenesis GO:0060349 9.37 FGFR2 FGFR3
14 peptidyl-tyrosine phosphorylation GO:0018108 9.33 EFNB1 FGFR2 FGFR3
15 embryonic pattern specification GO:0009880 9.32 EFNB1 FGFR2
16 positive regulation of phospholipase activity GO:0010518 8.96 FGFR2 FGFR3
17 endochondral bone growth GO:0003416 8.62 FGFR2 FGFR3

Molecular functions related to Hemifacial Hyperplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.43 FGFR2 FGFR3
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.4 FGFR2 FGFR3
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 FGFR2 FGFR3
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGFR2 FGFR3
6 fibroblast growth factor binding GO:0017134 9.16 FGFR2 FGFR3
7 protein tyrosine kinase activity GO:0004713 9.13 EFNB1 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3

Sources for Hemifacial Hyperplasia

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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