|
MCID: DSP003
MIFTS: 16
|
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Categories:
Fetal diseases, Rare diseases
|
|
|
|
||
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
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:
ICD10:
32
Orphanet: 58
Developmental anomalies during embryogenesis |
|
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
|
|
|
Human phenotypes related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:58 30 (show all 20)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:126190 (Updated 24-Oct-2022) |
|
|
Genetic tests related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
|
Organs/tissues related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
MalaCards :
Heart
|
Articles related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
|
|
|
|
Search
GEO
for disease gene expression data for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions.
|
|
|
|