MCID: SHR111
MIFTS: 9

Short Stature and Facioauriculothoracic Malformations

Aliases & Classifications for Short Stature and Facioauriculothoracic Malformations

MalaCards integrated aliases for Short Stature and Facioauriculothoracic Malformations:

Name: Short Stature and Facioauriculothoracic Malformations 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
short stature and facioauriculothoracic malformations:
Inheritance autosomal recessive inheritance


Summaries for Short Stature and Facioauriculothoracic Malformations

MalaCards based summary : Short Stature and Facioauriculothoracic Malformations Related phenotypes are short neck and pectus carinatum

More information from OMIM: 609654

Related Diseases for Short Stature and Facioauriculothoracic Malformations

Symptoms & Phenotypes for Short Stature and Facioauriculothoracic Malformations

Human phenotypes related to Short Stature and Facioauriculothoracic Malformations:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 pectus carinatum 31 HP:0000768
3 microtia 31 HP:0008551
4 microcephaly 31 HP:0000252
5 cleft palate 31 HP:0000175
6 high palate 31 HP:0000218
7 low-set ears 31 HP:0000369
8 ptosis 31 HP:0000508
9 pectus excavatum 31 HP:0000767
10 overfolded helix 31 HP:0000396
11 cleft upper lip 31 HP:0000204
12 ventricular septal defect 31 HP:0001629
13 cupped ear 31 HP:0000378
14 cervical ribs 31 HP:0000891
15 proportionate short stature 31 HP:0003508
16 abnormality of the odontoid process 31 HP:0003310

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Head And Neck Eyes:
ptosis

Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs
pectus carinatum (superiorly)
pectus excavatum (inferiorly)

Skeletal Spine:
l5-s1 fusion
sagittal cleft of vertebral body of l5
abnormal odontoid peg

Head And Neck Head:
microcephaly

Head And Neck Ears:
low-set ears
small ears
cup-shaped ears
overfolded helices

Cardiovascular Heart:
ventricular septal defect

Growth Height:
short stature, proportionate

Clinical features from OMIM:

609654

Drugs & Therapeutics for Short Stature and Facioauriculothoracic Malformations

Search Clinical Trials , NIH Clinical Center for Short Stature and Facioauriculothoracic Malformations

Genetic Tests for Short Stature and Facioauriculothoracic Malformations

Anatomical Context for Short Stature and Facioauriculothoracic Malformations

Publications for Short Stature and Facioauriculothoracic Malformations

Articles related to Short Stature and Facioauriculothoracic Malformations:

# Title Authors PMID Year
1
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. 56
15264289 2004

Variations for Short Stature and Facioauriculothoracic Malformations

Expression for Short Stature and Facioauriculothoracic Malformations

Search GEO for disease gene expression data for Short Stature and Facioauriculothoracic Malformations.

Pathways for Short Stature and Facioauriculothoracic Malformations

GO Terms for Short Stature and Facioauriculothoracic Malformations

Sources for Short Stature and Facioauriculothoracic Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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