MCID: SHR111
MIFTS: 10

Short Stature and Facioauriculothoracic Malformations

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Aliases & Classifications for Short Stature and Facioauriculothoracic Malformations

MalaCards integrated aliases for Short Stature and Facioauriculothoracic Malformations:

Name: Short Stature and Facioauriculothoracic Malformations 57

Characteristics:


Inheritance:

Autosomal recessive 57

Summaries for Short Stature and Facioauriculothoracic Malformations

MalaCards based summary: Short Stature and Facioauriculothoracic Malformations Related phenotypes are ptosis and high palate

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:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 HP:0000508
2 high palate 30 HP:0000218
3 short neck 30 HP:0000470
4 pectus carinatum 30 HP:0000768
5 microtia 30 HP:0008551
6 microcephaly 30 HP:0000252
7 cleft palate 30 HP:0000175
8 low-set ears 30 HP:0000369
9 pectus excavatum 30 HP:0000767
10 overfolded helix 30 HP:0000396
11 cleft upper lip 30 HP:0000204
12 ventricular septal defect 30 HP:0001629
13 cupped ear 30 HP:0000378
14 cervical ribs 30 HP:0000891
15 proportionate short stature 30 HP:0003508
16 abnormality of the odontoid process 30 HP:0003310

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
ptosis

Head And Neck Head:
microcephaly

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

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 Neck:
short neck

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

Cardiovascular Heart:
ventricular septal defect

Growth Height:
short stature, proportionate

Clinical features from OMIM®:

609654 (Updated 24-Oct-2022)

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. 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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