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 57 73

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


External Ids:

OMIM 57 108450
MedGen 42 C1862458
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Asymmetric Short Stature Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 micrognathia 32 HP:0000347
3 dental crowding 32 HP:0000678
4 convex nasal ridge 32 HP:0000444
5 fused cervical vertebrae 32 HP:0002949
6 esotropia 32 HP:0000565
7 hypermetropia 32 HP:0000540
8 asymmetric short stature 32 HP:0008929
9 lumbar scoliosis 32 HP:0004626
10 hemihypotrophy of lower limb 32 HP:0200053

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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