WebCranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which … WebChondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive, short-limbed, dwarfing dysplasia characterized by polydactyly, congenital heart anomalies, and ectodermal dysplasia evident at birth. From: Clinical Imaging (Third Edition), 2014 Related terms: View all Topics Add to Mendeley About this page
Chondroectodermal Dysplasia (Ellis-van Creveld Disease)
WebClinVar archives and aggregates information about relationships among variation and human health. WebDiastrophic dysplasia: Q776: Chondroectodermal dysplasia: Q777: Spondyloepiphyseal dysplasia: Q778: Other osteochondrodysplasia with defects of growth of tubular bones and spine: Q779: Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified: Q780: Osteogenesis imperfecta: Q781: Polyostotic fibrous dysplasia: Q782 ... supermarkets in hawes yorkshire
Skeletal ciliopathies: a pattern recognition approach
WebOsteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone (“osteo”) and cartilage (“chondro”). Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia (osteochondrodysplasia). WebSep 6, 2024 · In 1940, they formally described the genetic syndrome that bears their names, although they initially called it chondroectodermal dysplasia or mesoectodermal dysplasia. [ 2] Newborn with... http://gait.aidi.udel.edu/educate/chnect.htm supermarkets in great neck