MCID: ASY006
MIFTS: 10

Asymmetric Short Stature Syndrome

Aliases & Classifications for Asymmetric Short Stature Syndrome

MalaCards integrated aliases for Asymmetric Short Stature Syndrome:

Name: Asymmetric Short Stature Syndrome 58 74

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


External Ids:

OMIM 58 108450
MedGen 43 C1862458
UMLS 74 C1862458

Summaries for Asymmetric Short Stature Syndrome

MalaCards based summary : Asymmetric Short Stature Syndrome Affiliated tissues include bone, and related phenotypes are frontal bossing and micrognathia

Description from OMIM: 108450

Related Diseases for Asymmetric Short Stature Syndrome

Symptoms & Phenotypes for Asymmetric Short Stature Syndrome

Human phenotypes related to Asymmetric Short Stature Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 micrognathia 33 HP:0000347
3 dental crowding 33 HP:0000678
4 convex nasal ridge 33 HP:0000444
5 fused cervical vertebrae 33 HP:0002949
6 esotropia 33 HP:0000565
7 hypermetropia 33 HP:0000540
8 asymmetric short stature 33 HP:0008929
9 lumbar scoliosis 33 HP:0004626
10 hemihypotrophy of lower limb 33 HP:0200053

Symptoms via clinical synopsis from OMIM:

58
Teeth:
dental crowding

Neuro:
normal intelligence

Head:
mild frontal bossing
small almost beaked nose
mandibular hypoplasia

Spine:
pelvic tilt
lumbar scoliosis

Eyes:
esotropia
hyperopia

Growth:
asymmetric short stature

Limbs:
asymmetric leg shortening

Radiology:
fused atypical cervical vertebrae, carpal bones and ribs

Clinical features from OMIM:

108450

Drugs & Therapeutics for Asymmetric Short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Asymmetric Short Stature Syndrome

Genetic Tests for Asymmetric Short Stature Syndrome

Anatomical Context for Asymmetric Short Stature Syndrome

MalaCards organs/tissues related to Asymmetric Short Stature Syndrome:

42
Bone

Publications for Asymmetric Short Stature Syndrome

Variations for Asymmetric Short Stature Syndrome

Expression for Asymmetric Short Stature Syndrome

Search GEO for disease gene expression data for Asymmetric Short Stature Syndrome.

Pathways for Asymmetric Short Stature Syndrome

GO Terms for Asymmetric Short Stature Syndrome

Sources for Asymmetric Short Stature 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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