OTOFACIOCERVICAL SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: OFC
OFC1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 166780
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000460) Narrow nose 14 / 7739
2
(HPO:0000472) Long neck 8 / 7739
3
(HPO:0000276) Long face 109 / 7739
4
(HPO:0000405) Conductive hearing impairment 164 / 7739
5
(HPO:0004467) Preauricular pit 39 / 7739
6
(HPO:0001256) Intellectual disability, mild 141 / 7739
7
(HPO:0003691) Scapular winging 51 / 7739
8
(HPO:0200021) Down-sloping shoulders 18 / 7739
9
(OMIM) Lateral cervical fistulas 1 / 7739
10
(OMIM) Large conchae 1 / 7739
11
(OMIM) Prominent auricles 1 / 7739
12
(OMIM) Sunken nasal root 1 / 7739
13
(OMIM) Low-set clavicles 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 Otofaciocervical syndrome was described by Fara et al. (1967) in a man and 4 of his 7 children. The otologic features were conductive hearing loss and prominent auricles with large conchae and preauricular fistulas just in front of ...
Molecular genetics OMIM Estefania et al. (2006) described a patient with the OFC syndrome who had a change of the first nucleotide in intron 6 of the EYA1 gene from guanine to adenine (540+1G-A; 601653.0014). The patient, who was 29 years ...