THAI SYMPHALANGISM SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 608028
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000426) Prominent nasal bridge 121 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0000268) Dolichocephaly 144 / 7739
5
 (HPO:0000289) Broad philtrum 11 / 7739
6
 (HPO:0000668) Hypodontia 81 / 7739
7
 (HPO:0000508) Ptosis 459 / 7739
8
 (HPO:0000385) Small earlobe 9 / 7739
9
 (HPO:0008589) Hypoplastic helices 2 / 7739
10
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
11
 (HPO:0009381) Short finger 45 / 7739
12
 (HPO:0100259) Postaxial polydactyly 85 / 7739
13
 (HPO:0001204) Distal symphalangism of hands 13 / 7739
14
 (HPO:0006152) Proximal symphalangism of hands 9 / 7739
15
 (HPO:0001831) Short toe 52 / 7739
16
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
17
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
18
 (HPO:0004322) Short stature 1232 / 7739
19
 (MedDRA:10072883) Brachydactyly 153 / 7739
20
 (HPO:0003745) Sporadic 131 / 7739
21
 (OMIM) Symphalangism, proximal and distal 1 / 7739
22
 (OMIM) Multiple hyperplastic frenula 1 / 7739
23
 (OMIM) Congenital absence of distal phalanges (toes 2-5) 1 / 7739
24
 (OMIM) Prominent, broad nasal bridge 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: