MCID: THS001
MIFTS: 11

Thai Symphalangism Syndrome

Categories: Rare diseases

Aliases & Classifications for Thai Symphalangism Syndrome

MalaCards integrated aliases for Thai Symphalangism Syndrome:

Name: Thai Symphalangism Syndrome 57 53 29 72

Characteristics:

OMIM:

57
Inheritance:
isolated cases


HPO:

32
thai symphalangism syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 608028
MedGen 42 C1842679
UMLS 72 C1842679

Summaries for Thai Symphalangism Syndrome

MalaCards based summary : Thai Symphalangism Syndrome Related phenotypes are high palate and ptosis

More information from OMIM: 608028

Related Diseases for Thai Symphalangism Syndrome

Symptoms & Phenotypes for Thai Symphalangism Syndrome

Human phenotypes related to Thai Symphalangism Syndrome:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 ptosis 32 HP:0000508
3 wide nasal bridge 32 HP:0000431
4 short stature 32 HP:0004322
5 dolichocephaly 32 HP:0000268
6 broad philtrum 32 HP:0000289
7 short toe 32 HP:0001831
8 prominent nasal bridge 32 HP:0000426
9 brachydactyly 32 HP:0001156
10 small earlobe 32 HP:0000385
11 hypodontia 32 HP:0000668
12 short finger 32 HP:0009381
13 postaxial hand polydactyly 32 HP:0001162
14 postaxial foot polydactyly 32 HP:0001830
15 hypoplastic helices 32 HP:0008589
16 distal symphalangism of hands 32 HP:0001204
17 proximal symphalangism of hands 32 HP:0006152

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Nose:
broad philtrum
prominent, broad nasal bridge

Skeletal Feet:
brachydactyly
postaxial polydactyly
congenital absence of distal phalanges (toes 2-5)

Head And Neck Ears:
hypoplastic helices
hypoplastic lobules

Head And Neck Eyes:
blepharoptosis

Head And Neck Head:
dolichocephaly

Skeletal Hands:
brachydactyly
postaxial polydactyly
symphalangism, proximal and distal

Head And Neck Teeth:
hypodontia

Head And Neck Mouth:
high-arched palate
multiple hyperplastic frenula

Clinical features from OMIM:

608028

Drugs & Therapeutics for Thai Symphalangism Syndrome

Search Clinical Trials , NIH Clinical Center for Thai Symphalangism Syndrome

Genetic Tests for Thai Symphalangism Syndrome

Genetic tests related to Thai Symphalangism Syndrome:

# Genetic test Affiliating Genes
1 Thai Symphalangism Syndrome 29

Anatomical Context for Thai Symphalangism Syndrome

Publications for Thai Symphalangism Syndrome

Articles related to Thai Symphalangism Syndrome:

# Title Authors PMID Year
1
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5. 8
12838559 2003

Variations for Thai Symphalangism Syndrome

Expression for Thai Symphalangism Syndrome

Search GEO for disease gene expression data for Thai Symphalangism Syndrome.

Pathways for Thai Symphalangism Syndrome

GO Terms for Thai Symphalangism Syndrome

Sources for Thai Symphalangism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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