• The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. (rush.edu)
  • Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
  • Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
  • Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. (nih.gov)
  • Van Buchem disease: lifetime evolution of radioclinical features. (nih.gov)
  • Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. (medlineplus.gov)
  • The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms. (medlineplus.gov)
  • Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. (beds.ac.uk)
  • Mutations in the TGFB1 gene cause Camurati-Engelmann disease. (medlineplus.gov)
  • The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of an overly active TGFβ-1 protein. (medlineplus.gov)
  • Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. (bvsalud.org)
  • The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. (medlineplus.gov)
  • n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. (beds.ac.uk)
  • Hand of a patient with Apert syndrome showing syndactyly (bone and soft tissue). (medscape.com)
  • Some individuals with Camurati-Engelmann disease do not have an identified mutation in the TGFB1 gene. (medlineplus.gov)
  • n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). (beds.ac.uk)
  • We also present a review of the literature on the diagnosis and differential diagnosis of MDS based on clinical and imaging features. (nih.gov)
  • Hypertrophic osteoarthropathy (HOA) is a clinical syndrome of clubbing of the fingers and toes, enlargement of the extremities, and painful, swollen joints. (medscape.com)
  • A syndrome inherited as an autosomal recessive trait and incompatible with life. (rush.edu)
  • Furthermore, the human genome is estimated to contain about 80,000 genes, so many rare syndromes may have yet to be defined. (medscape.com)
  • He found that roughly 25% of the articles tagged by the NLM only featured 100 of the 20,000 human genes. (darkdaily.com)
  • Raro trastorno congénito del tejido linfático debido a mutaciones en ciertos genes de la vía del ligando Fas-Fas. (bvsalud.org)
  • Las causas conocidas incluyen mutaciones en los genes de las proteínas FAS, TNFSF6, ANR, CASP8 y CASP10. (bvsalud.org)
  • Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life. (beds.ac.uk)
  • The following classification of otolaryngological syndromes and conditions is based on system involvement. (medscape.com)
  • Loeys-Dietz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
  • In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. (medlineplus.gov)
  • Radiograph of both hands in a 42-year-old man with a family history of primary hypertrophic osteoarthropathy who had coarsened facial features and thickness of the scalp. (medscape.com)
  • The predominant x-ray feature is marked thickening of the periosteal and medullary surfaces of the diaphyseal cortices of the long bones, but findings vary. (msdmanuals.com)
  • This category only includes cookies that ensures basic functionalities and security features of the website. (insidesurgery.com)
  • This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in this website by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publications. (wakehealth.edu)
  • HPOA is a syndrome in which clubbing of fingers and toes, arthritis, and periostitis occur. (medscape.com)
  • Below are the most recent publications written about "Short Rib-Polydactyly Syndrome" by people in Profiles. (rush.edu)
  • Therefore, on the basis of the main units and features in the area, as well as the main geological events, in this review we define eight geological frameworks that intend to summarize the geological history of the region. (tlcdesigncenter.com)
  • The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. (nih.gov)
  • Camurati-Engelmann disease is caused by a genetic change in the TGFB1 gene and inheritance is autosomal dominant. (nih.gov)
  • Mutations in the TGFB1 gene cause Camurati-Engelmann disease. (medlineplus.gov)
  • The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of an overly active TGFβ-1 protein. (medlineplus.gov)
  • Some individuals with Camurati-Engelmann disease do not have an identified mutation in the TGFB1 gene. (medlineplus.gov)
  • Camurati-Engelmann disease is a genetic condition that mainly affects the bones. (nih.gov)
  • In some cases, people have the genetic change that causes Camurati-Engelmann disease but they never develop symptoms. (nih.gov)
  • These cases are referred to as Camurati-Engelmann disease type 2. (nih.gov)
  • When Do Symptoms of Camurati-Engelmann disease Begin? (nih.gov)
  • The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. (medlineplus.gov)
  • In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. (medlineplus.gov)
  • The prevalence of Camurati-Engelmann disease is unknown. (medlineplus.gov)
  • As a result, the bones in the arms, legs, and skull are thicker than normal, contributing to the movement and neurological problems often experienced by individuals with Camurati-Engelmann disease. (medlineplus.gov)
  • Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. (harvard.edu)
  • Based on the above data, we summarized and discussed the clinical features, bone complications and drug treatment of the patient with AHC, in order to yield deeper understanding of the disease, further explore the individualized treatment of such patients with secondary osteoporosis. (researchsquare.com)
  • X-ray and magnetic resonance imaging showed periostitis in the tibias and fibulas, which could not exclude Camurati-Engelmann disease. (akjournals.com)
  • DiGeorge Syndrome Type 2 A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. (nih.gov)
  • AHC can also occur as portion of the Xp21 deletion syndrome, including the phenotypes of Glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD), and mental retardation[6,7]. (researchsquare.com)
  • The evolution of the clinical features has been assessed by retrospective analysis of the clinical records of the patients. (nih.gov)
  • Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection. (harvard.edu)
  • No data available about the known clinical features onset. (mendelian.co)
  • HPOA is a syndrome in which clubbing of fingers and toes, arthritis, and periostitis occur. (medscape.com)
  • A syndrome inherited as an autosomal recessive trait and incompatible with life. (nih.gov)
  • Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life. (nih.gov)
  • Radiograph of both hands in a 42-year-old man with a family history of primary hypertrophic osteoarthropathy who had coarsened facial features and thickness of the scalp. (medscape.com)
  • Hypertrophic osteoarthropathy (HOA) is a clinical syndrome of clubbing of the fingers and toes, enlargement of the extremities, and painful, swollen joints. (medscape.com)
  • This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles. (harvard.edu)
  • Clipboard, Search History, and several other advanced features are temporarily unavailable. (nih.gov)