Bencze syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BENCZE SYNDROME
Hemifacial hyperplasia - strabismus
Number of Symptoms 14
OrphanetNr: 1241
OMIM Id: 141350
ICD-10: Q67.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
2
 (HPO:0000324) Facial asymmetry 57 / 7739
3
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
4
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
7
 (HPO:0000185) Cleft soft palate 18 / 7739
8
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
10
 (HPO:0005323) Hemifacial hypertrophy 3 / 7739
11
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
12
 (HPO:0000646) Amblyopia 42 / 7739
13
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hemifacial hyperplasia (133900) involves abnormal growth of the facial skeleton and its soft tissue structure and viscera. The neurocranium and eyeball are unaffected. Bencze et al. (1973) described 3 generations of a family demonstrating left-sided hemifacial hyperplasia localized ...