DDSH
MCID: DYS160
MIFTS: 26
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Dyssegmental Dysplasia, Silverman-Handmaker Type (DDSH)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Dyssegmental Dysplasia, Silverman-Handmaker Type:
Characteristics:Orphanet epidemiological data:59
dyssegmental dysplasia, silverman-handmaker type
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth; HPO:32
dyssegmental dysplasia, silverman-handmaker type:
Mortality/Aging neonatal death Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1865Disease definitionDyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.Visit the Orphanet disease page for more resources.
MalaCards based summary : Dyssegmental Dysplasia, Silverman-Handmaker Type, is also known as ddsh. An important gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type is HSPG2 (Heparan Sulfate Proteoglycan 2). Affiliated tissues include bone and eye, and related phenotypes are respiratory insufficiency and inguinal hernia Disease Ontology : 12 An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36. UniProtKB/Swiss-Prot : 75 Dyssegmental dysplasia Silverman-Handmaker type: The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.
Description from OMIM:
224410
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:224410Human phenotypes related to Dyssegmental Dysplasia, Silverman-Handmaker Type:59 32 (show all 29)
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MalaCards organs/tissues related to Dyssegmental Dysplasia, Silverman-Handmaker Type:41
Bone,
Eye
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Articles related to Dyssegmental Dysplasia, Silverman-Handmaker Type:
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ClinVar genetic disease variations for Dyssegmental Dysplasia, Silverman-Handmaker Type:6 (show top 50) (show all 541)
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Search
GEO
for disease gene expression data for Dyssegmental Dysplasia, Silverman-Handmaker Type.
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