• Cleidocranial Dysplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
  • This graph shows the total number of publications written about "Cleidocranial Dysplasia" by people in this website by year, and whether "Cleidocranial Dysplasia" was a major or minor topic of these publications. (jefferson.edu)
  • Below are the most recent publications written about "Cleidocranial Dysplasia" by people in Profiles. (jefferson.edu)
  • Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). (orthopedicshealth.com)
  • Cleidocranial dysplasia is inherited as an autosomal dominant genetic trait. (orthopedicshealth.com)
  • The most prominent feature of cleidocranial dysplasia is a premature closure of the two soft spots on the head (fontanels) and the fibrous joints where bones of the skull meet (sutures) causing abnormal development of the skull. (orthopedicshealth.com)
  • Individuals with cleidocranial dysplasia have an increased risk for recurrent ear and sinus infections, upper respiratory complications and hearing loss. (orthopedicshealth.com)
  • The gene for cleidocranial dysplasia has been mapped to chromosome 6p21 and has been designated CBFA1. (orthopedicshealth.com)
  • Treatment of a patient with cleidocranial dysplasia using a single-stage implant protocol. (jomos.org)
  • A natural history of cleidocranial dysplasia. (jomos.org)
  • Golan I, Baumert U, Hrala BP, Mussig D. Early craniofacial signs of cleidocranial dysplasia. (jomos.org)
  • Chen S, Santos L, Wu Y. Altered gene expression in human cleidocranial dysplasia dental pulp cells. (jomos.org)
  • Roberts T, Stephen L, Beighton P. Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (jomos.org)
  • Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report. (jomos.org)
  • RUNX2 mutations in cleidocranial dysplasia patients. (jomos.org)
  • Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss, craniofacial malformation, and ectodermal dysplasia. (bvsalud.org)
  • Cohen MM. Craniofacial abnormalities: clinical and molecular perspectives. (jomos.org)
  • Craniofacial abnormalities are birth defects of the face or head. (medlineplus.gov)
  • The specialists at the Craniofacial Team of Texas are experts in children with lumps and bumps and pediatric plastic surgery. (craniofacialteamtexas.com)
  • Please contact the Craniofacial Team of Texas if you would like to schedule an appointment. (craniofacialteamtexas.com)
  • If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request . (craniofacialteamtexas.com)
  • Some common benign lumps and bumps we treat at the Craniofacial Team of Texas are: congenital nevi, sebaceous nevi, dermoid cysts, atypical nevi, pilomatrixoma, epidermoid or sebaceous cyst. (craniofacialteamtexas.com)
  • The National Craniofacial Association lists several medical centers throughout the United States and Canada that specialize in treating this disorder. (orthopedicshealth.com)
  • Lossdorfer S, Abou jamra B, Rath-Deschner B, Götz W. The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis. (jomos.org)
  • Cleidocranial dysostosis is a congenital condition, which means it is present from before birth. (medlineplus.gov)
  • Cleidocranial dysplasia is usually inherited as autosomal dominant , but other modes of inheritance have been reported. (wikidoc.org)
  • Cleidocranial dysplasia is usually caused by mutations in the RUNX2 gene. (nih.gov)
  • Unilateral mandibulofacial dysostosis (Weyer's syndrome) with hypospadias and ventricular septal defect: report of case. (nih.gov)
  • Cadieux-Dion M, Hughes S, Engleman K, Rush ET, Saunders C. Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. (childrensmercy.org)
  • However, more recent clinical studies suggest that it is a generalized skeletal disorder that affects the entire skeleton and is therefore considered to be a dysplasia rather than a dysostosis. (wikidoc.org)
  • Cleidocranial dysplasia is a generalized skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have. (wikidoc.org)
  • Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area. (medlineplus.gov)
  • Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. (nih.gov)
  • People with cleidocranial dysostosis have a jaw and brow area that sticks out. (medlineplus.gov)
  • This graph shows the total number of publications written about "Craniofacial Dysostosis" by people in this website by year, and whether "Craniofacial Dysostosis" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Craniofacial Dysostosis" by people in Profiles. (childrensmercy.org)
  • Cleidocranial dysostosis is caused by an abnormal gene. (medlineplus.gov)
  • The RUNX2 gene mutations that cause cleidocranial dysplasia reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. (nih.gov)
  • In about 30 percent of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. (nih.gov)
  • Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). (nih.gov)
  • Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures. (nih.gov)
  • Family history of cleidocranial dysostosis and are planning to have a child. (medlineplus.gov)
  • Genetic counseling is appropriate if a person with a family or personal history of cleidocranial dysostosis is planning to have children. (medlineplus.gov)
  • Our philosophy at the Craniofacial Team of Texas is to treat our patients and their families like they are family. (craniofacialteamtexas.com)