Fryns-Smeets-Thiry syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2058
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
5
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
6
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
7
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
8
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
9
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
10
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
11
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
12
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
13
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
14
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
15
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
16
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
17
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
18
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: