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 58 54 30 74

Characteristics:

OMIM:

58
Inheritance:
isolated cases


HPO:

33
thai symphalangism syndrome:
Inheritance sporadic


Classifications:



Summaries for Thai Symphalangism Syndrome

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

Description from OMIM: 608028

Related Diseases for Thai Symphalangism Syndrome

Symptoms & Phenotypes for Thai Symphalangism Syndrome

Human phenotypes related to Thai Symphalangism Syndrome:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 ptosis 33 HP:0000508
3 wide nasal bridge 33 HP:0000431
4 short stature 33 HP:0004322
5 dolichocephaly 33 HP:0000268
6 short toe 33 HP:0001831
7 prominent nasal bridge 33 HP:0000426
8 brachydactyly 33 HP:0001156
9 small earlobe 33 HP:0000385
10 hypodontia 33 HP:0000668
11 short finger 33 HP:0009381
12 postaxial hand polydactyly 33 HP:0001162
13 postaxial foot polydactyly 33 HP:0001830
14 broad philtrum 33 HP:0000289
15 hypoplastic helices 33 HP:0008589
16 distal symphalangism of hands 33 HP:0001204
17 proximal symphalangism of hands 33 HP:0006152

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skeletal Hands:
brachydactyly
postaxial polydactyly
symphalangism, proximal and distal

Head And Neck Teeth:
hypodontia

Head And Neck Ears:
hypoplastic helices
hypoplastic lobules

Head And Neck Eyes:
blepharoptosis

Head And Neck Head:
dolichocephaly

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

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

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 30

Anatomical Context for Thai Symphalangism Syndrome

Publications for Thai Symphalangism Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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