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Mesomelia-synostoses syndrome
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis
Also Known As:
Mesomelia synostoses; Verloes-David syndrome
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Congenital Abnormalities: 25723
Multiple Abnormalities: 211
Mesomelia-synostoses syndrome: 1
Musculoskeletal Abnormalities: 43
Synostosis: 796
Mesomelia-synostoses syndrome: 1
Congenital Limb Deformities: 8
Mesomelia-synostoses syndrome: 1
Musculoskeletal Diseases: 719
Bone Diseases: 5863
Developmental Bone Diseases: 153
Dysostoses: 91
Synostosis: 796
Mesomelia-synostoses syndrome: 1
Musculoskeletal Abnormalities: 43
Synostosis: 796
Mesomelia-synostoses syndrome: 1
Congenital Limb Deformities: 8
Mesomelia-synostoses syndrome: 1
Related Diseases
1.
Chondrodysplasia Punctata (Stippled Epiphyses)
Experts
1.
Dawson, Paul A
: 1 article (08/2011)
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Mesomelia-synostoses syndrome:
1.
Sulfotransferases
IBA
08/01/2011 - "
The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth.
"
2.
Sulfates (Sulfates, Inorganic)
IBA
08/01/2011 - "
The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth.
"
3.
Sulfatases
IBA
08/01/2011 - "
The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth.
"
4.
Proteoglycans (Proteoglycan)
IBA
08/01/2011 - "
The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth.
"
5.
Sulfate Transporters
IBA
08/01/2011 - "
The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth.
"