MCID: DSP003
MIFTS: 16

Disproportionate Short Stature with Ptosis and Valvular Heart Lesions

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

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

Name: Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 57
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome 58 28

Characteristics:


Inheritance:

Disproportionate Short Stature with Ptosis and Valvular Heart Lesions: Autosomal dominant 57
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome: Autosomal dominant 58

Prevelance:

Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome: Infancy,Neonatal 58

Age Of Death:

Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome: normal life expectancy 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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

Orphanet: 58 Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

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 large face and ptosis

More information from OMIM: 126190

Related Diseases for Disproportionate Short Stature with Ptosis and Valvular Heart...

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

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

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 large face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100729
2 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
3 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
4 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
5 mitral valve prolapse 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001634
6 dental crowding 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000678
7 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
8 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
9 pulmonic stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001642
10 small hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200055
11 disproportionate short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003498
12 hypotonia 30 Occasional (7.5%) HP:0001252
13 abnormality of the dentition 58 30 Very frequent (99-80%)
HP:0000164
14 abnormal heart valve morphology 58 30 Very frequent (99-80%)
HP:0001654
15 muscular hypotonia 58 Occasional (29-5%)
16 short stature 30 HP:0004322
17 short palm 30 HP:0004279
18 short lower limbs 30 HP:0006385
19 radial deviation of finger 30 HP:0009466
20 clinodactyly 30 HP:0030084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Eyes:
ptosis

Limbs:
clinodactyly
disproportionately short legs
small hands

Mouth:
high-arched palate

Growth:
short stature

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

Teeth:
crowded dentition

Clinical features from OMIM®:

126190 (Updated 24-Oct-2022)

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

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

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

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

# Genetic test Affiliating Genes
1 Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome 28

Anatomical Context for Disproportionate Short Stature with Ptosis and Valvular Heart...

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

MalaCards : Heart

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

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. 57
2302822 1990

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

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

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

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

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

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

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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