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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Rubinstein-Taybi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Rubinstein-Taybi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Rubinstein-Taybi Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Rubinstein-Taybi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Rubinstein-Taybi Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Rubinstein-Taybi Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Rubinstein-Taybi Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Rubinstein-Taybi Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Rubinstein-Taybi Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Rubinstein-Taybi Syndrome

Terme préférentiel

Rubinstein-Taybi Syndrome  

Type

  • mesh:Descriptor

Définition

  • A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Concept générique

Synonyme(s)

  • Broad Thumb-Hallux Syndrome
  • Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
  • Rubinstein Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Rubinstein-Taybi

    français

  • SRT (Syndrome de Rubinstein-Taybi)
  • Syndrome de Rubinstein et Taybi
  • Syndrome des pouces et des gros orteils trop larges

URI

http://data.loterre.fr/ark:/67375/JVR-WM8ZHH7V-W

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2018