FACIOTHORACOGENITAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 227320
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:0000807) Glandular hypospadias 3 / 7739
2
 (HPO:0000049) Shawl scrotum 31 / 7739
3
 (HPO:0003246) Prominent scrotal raphe 2 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0000568) Microphthalmia 183 / 7739
7
 (HPO:0000319) Smooth philtrum 72 / 7739
8
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0006610) Wide intermamillary distance 46 / 7739
11
 (HPO:0000767) Pectus excavatum 244 / 7739
12
 (HPO:0001792) Small nail 55 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Prominent solar crease 1 / 7739
15
 (OMIM) Wide great toes 1 / 7739
16
 (OMIM) Wide thumbs 1 / 7739
17
 (OMIM) Long, flat philtrum 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: