MCID: HMF007
MIFTS: 18

Hemifacial Hyperplasia with Strabismus

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Hemifacial Hyperplasia with Strabismus

MalaCards integrated aliases for Hemifacial Hyperplasia with Strabismus:

Name: Hemifacial Hyperplasia with Strabismus 56 71
Bencze Syndrome 56 52 58
Hemifacial Hyperplasia-Strabismus Syndrome 58
Hemifacial Hyperplasia Strabismus 52

Characteristics:

Orphanet epidemiological data:

58
bencze syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hemifacial hyperplasia with strabismus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 141350
ICD10 via Orphanet 33 Q67.4
UMLS via Orphanet 72 C1841640
Orphanet 58 ORPHA1241
MedGen 41 C1841640
UMLS 71 C1841640

Summaries for Hemifacial Hyperplasia with Strabismus

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1241 Definition Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs , and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate . Transmission is autosomal dominant . There have been no further descriptions in the literature since 1979. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hemifacial Hyperplasia with Strabismus, also known as bencze syndrome, is related to cleft palate, isolated and monocular esotropia. Related phenotypes are facial asymmetry and extension of hair growth on temples to lateral eyebrow

More information from OMIM: 141350

Related Diseases for Hemifacial Hyperplasia with Strabismus

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

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.1
2 monocular esotropia 10.1
3 suppression amblyopia 10.1
4 amblyopia 10.1
5 esotropia 10.1

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



Diseases related to Hemifacial Hyperplasia with Strabismus

Symptoms & Phenotypes for Hemifacial Hyperplasia with Strabismus

Human phenotypes related to Hemifacial Hyperplasia with Strabismus:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
2 extension of hair growth on temples to lateral eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0005325
3 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
4 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
5 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
6 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
7 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
8 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
9 hemifacial hypertrophy 31 HP:0005323

Symptoms via clinical synopsis from OMIM:

56
Eyes:
strabismus
amblyopia

Mouth:
submucous cleft palate

Facies:
facial asymmetry
hemifacial hypertrophy

Clinical features from OMIM:

141350

Drugs & Therapeutics for Hemifacial Hyperplasia with Strabismus

Search Clinical Trials , NIH Clinical Center for Hemifacial Hyperplasia with Strabismus

Genetic Tests for Hemifacial Hyperplasia with Strabismus

Anatomical Context for Hemifacial Hyperplasia with Strabismus

Publications for Hemifacial Hyperplasia with Strabismus

Articles related to Hemifacial Hyperplasia with Strabismus:

# Title Authors PMID Year
1
An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome). 56 61
519901 1979
2
Dominant inheritance of hemifacial hyperplasia associated with strabismus. 56
4511798 1973
3
Perspectives on craniofacial asymmetry. IV. Hemi-asymmetries. 61
7608576 1995

Variations for Hemifacial Hyperplasia with Strabismus

Expression for Hemifacial Hyperplasia with Strabismus

Search GEO for disease gene expression data for Hemifacial Hyperplasia with Strabismus.

Pathways for Hemifacial Hyperplasia with Strabismus

GO Terms for Hemifacial Hyperplasia with Strabismus

Sources for Hemifacial Hyperplasia with Strabismus

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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