OTOFACIOCERVICAL SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: OFC2
Number of Symptoms 26
OrphanetNr:
OMIM Id: 615560
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000689) Dental malocclusion rare [HPO:skoehler] 114 / 7739
2
(HPO:0000308) Microretrognathia 78 / 7739
3
(HPO:0010807) Open bite 6 / 7739
4
(HPO:0000670) Carious teeth 145 / 7739
5
(HPO:0000522) Alacrima 14 / 7739
6
(HPO:0007678) Lacrimal duct stenosis 8 / 7739
7
(HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0004467) Preauricular pit 39 / 7739
10
(HPO:0000378) Cupped ear 34 / 7739
11
(HPO:0000410) Mixed hearing impairment 22 / 7739
12
(HPO:0002342) Intellectual disability, moderate rare [HPO:skoehler] 37 / 7739
13
(HPO:0003691) Scapular winging 51 / 7739
14
(HPO:0001182) Tapered finger rare [HPO:skoehler] 93 / 7739
15
(OMIM) Anterior scalloping, lower thoracic and lumbar vertebral bodies (in some patients) 1 / 7739
16
(OMIM) Periventricular white matter gliosis (in some patients) 1 / 7739
17
(OMIM) Developmental delay, moderate (in some patients) 1 / 7739
18
(OMIM) Cutaneous syndactyly, second and third toes (in some patients) 1 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Protruding shoulders 1 / 7739
21
(OMIM) Hearing loss, mixed conductive-sensorineural 2 / 7739
22
(MedDRA:10058668) Clinodactyly 91 / 7739
23
(OMIM) Fusion defect at L5/S1 (in some patients) 1 / 7739
24
(OMIM) Mastoiditis, bilateral (in some patients) 1 / 7739
25
(HPO:0030084) Clinodactyly rare [HPO:skoehler] 90 / 7739
26
(OMIM) Preauricular fistulas, bilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otofaciocervical syndrome (OFC) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl ...
Clinical Description OMIM Pohl et al. (2013) studied a large consanguineous Turkish family segregating autosomal recessive otofaciocervical syndrome, with 4 affected members from 2 different branches of the family. All affected individuals presented with cup-shaped ears, bilateral mixed hearing loss, bilateral ...
Molecular genetics OMIM By whole-exome sequencing in affected members of a large consanguineous Turkish family segregating autosomal recessive OFC syndrome, Pohl et al. (2013) identified homozygosity for a missense variant in the PAX1 gene (G166V; 167411.0001). Sanger sequencing confirmed that homozygosity ...