MCID: HMF009
MIFTS: 43

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 58
Hemifacial Hypertrophy 57 58 29
Facial Asymmetry 57 6 32
Facial Hemihypertrophy 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hemifacial hyperplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 133900
ICD10 32 Q67.0
ICD10 via Orphanet 33 Q67.4
UMLS via Orphanet 71 C1399354
Orphanet 58 ORPHA141145
MedGen 41 C1399354

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) (Updated 05-Apr-2021)

MalaCards based summary : Hemifacial Hyperplasia, also known as hemifacial hypertrophy, 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 MAPK signaling pathway and Neural Crest Differentiation. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include eye and tongue, and related phenotypes are dental malocclusion and hypoplasia of the maxilla

Wikipedia : 73 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 220)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 31.3 FGFR3 FGFR2 EFNB1
2 plagiocephaly 30.4 FGFR3 FGFR2
3 nevus, epidermal 30.1 FGFR3 FGFR2
4 synostosis 30.1 FGFR3 FGFR2 EFNB1
5 craniosynostosis 29.7 FGFR3 FGFR2 EFNB1
6 radioulnar synostosis 29.6 FGFR3 FGFR2
7 chromosome 2q35 duplication syndrome 29.5 FGFR3 FGFR2 EFNB1
8 muenke syndrome 29.4 FGFR3 FGFR2 EFNB1
9 hemifacial hyperplasia with strabismus 11.6
10 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.4
11 klippel-feil syndrome 11.3
12 mehes syndrome 11.3
13 elsahy-waters syndrome 11.3
14 syndromic x-linked intellectual disability snyder type 11.2
15 jorgenson lenz syndrome 11.1
16 craniofacial microsomia 11.1
17 craniofrontonasal syndrome 11.1
18 focal dermal hypoplasia 11.1
19 mental retardation, x-linked, syndromic, snyder-robinson type 11.1
20 oculoauriculofrontonasal syndrome 11.1
21 auriculo-condylar syndrome 11.1
22 torticollis 11.0
23 hemifacial microsomia 11.0
24 charge syndrome 11.0
25 silent sinus syndrome 11.0
26 fourth cranial nerve palsy, familial congenital 10.9
27 hemifacial microsomia with radial defects 10.9
28 johnson neuroectodermal syndrome 10.9
29 microcephaly-deafness syndrome 10.9
30 amyotrophy, hereditary neuralgic 10.9
31 schilbach-rott syndrome 10.9
32 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 10.9
33 aicardi-goutieres syndrome 1 10.9
34 aicardi syndrome 10.9
35 melnick-needles syndrome 10.9
36 orofaciodigital syndrome i 10.9
37 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 10.9
38 frias syndrome 10.9
39 vacterl association 10.9
40 ring chromosome 7 10.9
41 ankylosis 10.5
42 cleft lip 10.5
43 cleft lip/palate 10.4
44 facial paralysis 10.3
45 osteochondroma 10.3
46 overgrowth syndrome 10.3
47 temporomandibular ankylosis 10.3
48 congenital torticollis 10.3
49 ptosis 10.2
50 lipomatosis 10.2

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



Diseases related to Hemifacial Hyperplasia

Symptoms & Phenotypes for Hemifacial Hyperplasia

Human phenotypes related to Hemifacial Hyperplasia:

31
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 31 HP:0000689
2 hypoplasia of the maxilla 31 HP:0000327
3 facial asymmetry 31 HP:0000324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Facies:
maxillary hypoplasia
mandibular asymmetry

Teeth:
malocclusion

Clinical features from OMIM®:

133900 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hemifacial Hyperplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 EFNB1 FGFR2 FGFR3 FLNC

Drugs & Therapeutics for Hemifacial Hyperplasia

Drugs for Hemifacial Hyperplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Neurotransmitter Agents Phase 4
4 Cholinergic Agents Phase 4
5 Botulinum Toxins Phase 4
6 Botulinum Toxins, Type A Phase 4
7 incobotulinumtoxinA Phase 4
8
Iron Approved 7439-89-6 23925 29936
9
Iron isomaltoside 1000 Approved, Investigational 1370654-58-2
10 Hematinics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized, Single-blind Comparison of Three Commercially Available Botulinum Neuromodulators in the Management of Facial Synkinesis Completed NCT03048383 Phase 4 OnabotulinumtoxinA Injectable Product;AbobotulinumtoxinA Injectable Product;Incobotulinumtoxin A Injectable Product
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Efficacy of Intravenous Iron Therapy in Maintaining Hemoglobin Concentration on Patients Undergoing Bimaxillary Orthognathic Surgery Unknown status NCT03094182 Iron Isomaltoside 1000;Normal saline
4 Accuracy Evaluation of A CAD/CAM Surgical Template for Mandible Distraction Unknown status NCT03270618
5 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Unknown status NCT03540329
6 Computational Modeling for Prediction of Acoustic Changes in Vowel Production Unknown status NCT01887977
7 Computer Assisted Orthognathic Surgery. Facial Asymmetry Completed NCT01879969
8 Prevalence of Facial Asymmetry Among PreOrthodontic Adult Patients: A Crosssectional Retrospective Study Recruiting NCT04635319
9 Application of Virtual Mandibular Position in Temporomandibular Jont Reconstruction With Costochondral Graft in Children Jaw Deformity. Recruiting NCT03845088

Search NIH Clinical Center for Hemifacial Hyperplasia

Genetic Tests for Hemifacial Hyperplasia

Genetic tests related to Hemifacial Hyperplasia:

# Genetic test Affiliating Genes
1 Hemifacial Hypertrophy 29

Anatomical Context for Hemifacial Hyperplasia

MalaCards organs/tissues related to Hemifacial Hyperplasia:

40
Eye, Tongue

Publications for Hemifacial Hyperplasia

Articles related to Hemifacial Hyperplasia:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Hemifacial hypertrophy. Review of the literature and addition of four cases. 57 61
14494649 1962
2
Familial facial asymmetry (autosomal dominant hemihypertrophy?). 57
6935582 1980
3
Hemifacial hyperplasia: a case series and review of the literature. 61
32622511 2021
4
Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth? 61
32249036 2020
5
Congenital infiltrating lipomatosis of the face with temporomandibular joint ankylosis. 61
33041589 2020
6
Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia. 61
31280031 2019
7
Retinal vascular abnormalities in Sturge-Weber syndrome. 61
31238475 2019
8
Congenital hemifacial hyperplasia. 61
29402434 2018
9
Hemifacial Hyperplasia. 61
28839423 2017
10
Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review. 61
27843653 2016
11
Hemifacial hypertrophy: Exploring new avenues of treatment modalities. 61
28163490 2016
12
Congenital infiltrating lipomatosis of face: case report and review of literature. 61
25872637 2015
13
Computer-assisted planning and navigation for the treatment of true hemifacial hyperplasia. 61
25759928 2015
14
Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia. 61
26229595 2015
15
Gingival enlargement in partial hemifacial hyperplasia. 61
25624636 2014
16
Role of CT Imaging with Volume Reconstruction in Hemi Facial Hypertrophy: A Pediatric Case Report. 61
25121045 2014
17
Hemifacial Hyperplasia: A Case Report. 61
31440361 2013
18
A rare clinical case of true hemifacial hyperplasia. 61
24005464 2013
19
Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome. 61
22241876 2013
20
Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature. 61
22241871 2013
21
Clinical and imaging findings of true hemifacial hyperplasia. 61
24349801 2013
22
Lipomatosis: a diverse form of hemifacial hyperplasia. 61
23071970 2012
23
Changes in the masticatory organ in patients with Recklinghausen's disease - a case report. 61
23788929 2012
24
Congenital hemifacial hyperplasia. 61
22090778 2011
25
Isolated hemifacial hyperplasia. 61
21415647 2011
26
Tumescent liposuction in the treatment of partial hemifacial hypertrophy. 61
21044224 2010
27
Congenital infiltrating lipomatosis of the face: report of three cases and review of the literature. 61
20338773 2010
28
Clinical and imaging features in a patient with hemifacial hyperplasia. 61
20881349 2010
29
Hemifacial lipomatosis, a possible subtype of partial hemifacial hyperplasia: CT and MR imaging findings. 61
19926700 2010
30
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients. 61
20335870 2010
31
Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial region as depicted on CT and MRI. 61
20452890 2010
32
Epidermal nevus syndrome: an unusual cerebellar involvement. 61
19682745 2009
33
Congenital isolated hemifacial hyperplasia. 61
19424770 2009
34
Comparison between true and partial hemifacial hypertrophy. 61
17448705 2007
35
Multiple orofacial intraneural perineuriomas in a patient with hemifacial hyperplasia. 61
17449293 2007
36
Crossed hemifacial hyperplasia: a diagnostic dilemma. 61
17456967 2007
37
[Unilateral facial and cerebral hyperplasia associated with neurofibromatosis type 1. Report of four patients]. 61
16981165 2006
38
Isolated hemifacial hypertrophy: a case with upper airway obstruction and sensorineural hearing loss. 61
16700954 2006
39
[A girl with congenital hemifacial hypertrophy]. 61
16886321 2006
40
Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas. 61
16481142 2006
41
Hemifacial hyperplasia: a case report. 61
15954255 2005
42
Histopathology of the teeth in segmental odontomaxillary dysplasia: new findings. 61
15061714 2004
43
Craniofacial and dental manifestations of Proteus syndrome: a case report. 61
11879083 2002
44
Hemifacial myohyperplasia: description of a new syndrome. 61
11746014 2001
45
Magnetic resonance imaging in hemifacial hyperplasia. 61
11681487 2001
46
Orofacial findings in the Klippel-Trénaunay syndrome. 61
11484474 2001
47
Increased proliferative activity of osteoblasts in congenital hemifacial hypertrophy. 61
9774017 1998
48
Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome? 61
8588580 1995
49
Klippel-Trenaunay-Weber syndrome: literature review and case report. 61
8058550 1994
50
[Which diagnosis? Apropos of hemifacial hypertrophy]. 61
8304735 1993

Variations for Hemifacial Hyperplasia

ClinVar genetic disease variations for Hemifacial Hyperplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNC-AS1 , FLNC NM_001458.5(FLNC):c.7562-15_7637delinsGAGG Indel Pathogenic 599235 rs1563005360 GRCh37: 7:128497157-128497247
GRCh38: 7:128857103-128857193
2 EFNB1 GRCh37/hg19 Xq13.1(chrX:68058460-68059931) copy number loss Pathogenic 523309 GRCh37: X:68058460-68059931
GRCh38:
3 overlap with 7 genes GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863) copy number gain Pathogenic 997068 GRCh37: 15:30943903-32510863
GRCh38:
4 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
5 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Likely pathogenic 13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
6 COL1A2 NM_000089.4(COL1A2):c.280-7T>C SNV Uncertain significance 978557 GRCh37: 7:94033861-94033861
GRCh38: 7:94404549-94404549
7 FBN2 NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) SNV Uncertain significance 978558 GRCh37: 5:127610307-127610307
GRCh38: 5:128274615-128274615
8 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>A SNV Uncertain significance 374062 rs200627037 GRCh37: 3:178921589-178921589
GRCh38: 3:179203801-179203801
9 SMARCA4 NM_001128849.2(SMARCA4):c.1358C>T (p.Thr453Ile) SNV Likely benign 374051 rs1057518862 GRCh37: 19:11101938-11101938
GRCh38: 19:10991262-10991262

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:

# Super pathways Score Top Affiliating Genes
1 12.16 FLNC FGFR3 FGFR2
2 11.41 FGFR3 FGFR2
3 11.3 FGFR3 FGFR2 EFNB1
4 11.21 FGFR3 FGFR2
5 10.91 FGFR3 FGFR2
6 10.79 FGFR3 FGFR2
7 10.75 FGFR3 FGFR2 EFNB1

GO Terms for Hemifacial Hyperplasia

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.48 FGFR3 FGFR2
2 positive regulation of MAPK cascade GO:0043410 9.46 FGFR3 FGFR2
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR3 FGFR2
4 positive regulation of kinase activity GO:0033674 9.4 FGFR3 FGFR2
5 bone mineralization GO:0030282 9.37 FGFR3 FGFR2
6 cell-cell signaling GO:0007267 9.33 FGFR3 FGFR2 EFNB1
7 bone morphogenesis GO:0060349 9.32 FGFR3 FGFR2
8 embryonic pattern specification GO:0009880 9.26 FGFR2 EFNB1
9 positive regulation of phospholipase activity GO:0010518 8.96 FGFR3 FGFR2
10 endochondral bone growth GO:0003416 8.62 FGFR3 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.26 FGFR3 FGFR2
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FGFR3 FGFR2
3 fibroblast growth factor binding GO:0017134 8.96 FGFR3 FGFR2
4 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR3 FGFR2

Sources for Hemifacial Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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