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MCID: DSP003
MIFTS: 15

Disproportionate Short Stature with Ptosis and Valvular Heart Lesions

Categories: Fetal diseases, Rare diseases
Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Disproportionate Short Stature with Ptosis and Valvular Heart...

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MalaCards integrated aliases for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:

Name: Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 56 29
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
short stature-valvular heart disease-characteristic facies syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
disproportionate short stature with ptosis and valvular heart lesions:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


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Summaries for Disproportionate Short Stature with Ptosis and Valvular Heart...

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MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies syndrome. Affiliated tissues include heart, and related phenotypes are delayed skeletal maturation and large face

More information from OMIM: 126190
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Related Diseases for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Symptoms & Phenotypes for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Human phenotypes related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
4 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
5 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
6 dental crowding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000678
7 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
8 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
9 pulmonic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001642
10 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
11 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
12 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
13 abnormality of the dentition 58 31 Very frequent (99-80%) HP:0000164
14 abnormal heart valve morphology 58 31 Very frequent (99-80%) HP:0001654
15 short stature 31 HP:0004322
16 short palm 31 HP:0004279
17 short lower limbs 31 HP:0006385
18 radial deviation of finger 31 HP:0009466
19 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Growth:
short stature

Limbs:
clinodactyly
disproportionately short legs
small hands

Mouth:
high-arched palate

Eyes:
ptosis

Cardiac:
pulmonary valve stenosis
valvular heart disease
thick collapsed mitral valve

Teeth:
crowded dentition

Clinical features from OMIM:

126190
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Drugs & Therapeutics for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Search Clinical Trials , NIH Clinical Center for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions

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Genetic Tests for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Genetic tests related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:

# Genetic test Affiliating Genes
1 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 29
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Anatomical Context for Disproportionate Short Stature with Ptosis and Valvular Heart...

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MalaCards organs/tissues related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:

40
Heart
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Publications for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Articles related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:

# Title Authors PMID Year
1
A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies. 56
2302822 1990
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Variations for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Expression for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Search GEO for disease gene expression data for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions.
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Pathways for Disproportionate Short Stature with Ptosis and Valvular Heart...

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GO Terms for Disproportionate Short Stature with Ptosis and Valvular Heart...

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Sources for Disproportionate Short Stature with Ptosis and Valvular Heart...

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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