FACES syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 1969
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
2
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
3
 (HPO:0010290) Short hard palate Frequent [Orphanet] 5 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
5
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
6
 (HPO:0000820) Abnormality of the thyroid gland Frequent [Orphanet] 19 / 7739
7
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
8
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
9
 (HPO:0001555) Asymmetry of the thorax Frequent [Orphanet] 15 / 7739
10
 (HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
11
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
12
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
13
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0001010) Hypopigmentation of the skin Occasional [Orphanet] 46 / 7739
16
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
17
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
18
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
19
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
20
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: