Otofaciocervical syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OFC syndrome
Fara-Chlupackova syndrome
Number of Symptoms 29
OrphanetNr: 2792
OMIM Id: 166780
615560
ICD-10: Q87.0
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: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0000472) Long neck 8 / 7739
5
 (HPO:0000460) Narrow nose 14 / 7739
6
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
7
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0000276) Long face 109 / 7739
10
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
11
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
12
 (HPO:0004467) Preauricular pit 39 / 7739
13
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
14
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
15
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
16
 (HPO:0001256) Intellectual disability, mild 141 / 7739
17
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
18
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
19
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
20
 (HPO:0003691) Scapular winging 51 / 7739
21
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
22
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
23
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
24
 (HPO:0200021) Down-sloping shoulders 18 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: