Dyssegmental dysplasia

Also Known As:

Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type; Anisospondylic camptomicromelic dwarfism; Dyssegmental Dwarfism, Silverman-Handmaker Type; Dyssegmental Dysplasia, Silverman-Handmaker Type; Dyssegmental dwarfism; Dyssegmental dysplasia Silverman Handmaker type

Networked: 11 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Dyssegmental dysplasia: 11
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Dyssegmental dysplasia: 11
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Dyssegmental dysplasia: 11

Related Diseases

1.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
2.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
3.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
4.	Chondrodysplasia Punctata (Stippled Epiphyses)
5.	Desbuquois syndrome

Experts

1.	Arikawa-Hirasawa, Eri: 2 articles (01/2022 - 05/2002)
2.	Arikawa-Hirasawa, E: 2 articles (04/2001 - 01/2001)
3.	Wilcox, W R: 2 articles (04/2001 - 01/2001)
4.	Yamada, Y: 2 articles (04/2001 - 01/2001)
5.	Azouz, Michel E: 1 article (01/2018)
6.	Basalom, Shuaa: 1 article (01/2018)
7.	De Bie, Isabelle: 1 article (01/2018)
8.	Shear, Roberta: 1 article (01/2018)
9.	Trakadis, Yannis: 1 article (01/2018)
10.	Chitayat, David: 1 article (11/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dyssegmental dysplasia:

1.	Proteoglycans (Proteoglycan)IBA 08/01/1994 - "Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected."
2.	DNA (Deoxyribonucleic Acid)IBA 11/01/2013 - "The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). "
3.	perlecanIBA 01/01/2018 - "Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. " 10/01/2005 - "Another human recessive disorder, the Dyssegmental Dysplasia, Silverman-Handmaker type (DDSH), is caused by functional null mutations of the perlecan gene. " 04/01/2001 - "Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410). " 04/01/2001 - "Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene." 01/01/2001 - "Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development."
4.	Metalloproteases (Metalloproteinases)IBA 02/01/2003 - "Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) were measured in a mild case of dyssegmental dysplasia. "
5.	Matrix Metalloproteinases (MMPs)IBA 02/01/2003 - "Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) were measured in a mild case of dyssegmental dysplasia. "
6.	Tissue Inhibitor of Metalloproteinase-1IBA 02/01/2003 - "Reduced levels of MMP-2 and TIMP-1 in dyssegmental dysplasia."
7.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "One is Silverman-Handmaker type dyssegmental dysplasia, resulting from the complete loss of function of the HSPG2 gene that encodes perlecan core protein, which is mapped to chromosome 1p36. "
8.	Peptides (Polypeptides)IBA 05/01/1983 - "In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. "
9.	CollagenIBA 05/01/1983 - "In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. "