Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Langer-Giedion Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Langer-Giedion Syndrome

Preferred term

Langer-Giedion Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Acrodysplasia V
  • Acrodysplasia Vs
  • Giedion Langer Syndrome
  • Giedion-Langer Syndrome
  • Syndrome, Giedion-Langer
  • Trichorhinophalangeal Syndrome Type 2
  • Tricho Rhino Phalangeal Syndrome Type II
  • Tricho-Rhino-Phalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome, Type II
  • Trichorhinophalangeal Syndrome with Exostoses
  • TRPSII

Note

  • an osteochondrodysplasia

Scope note

  • Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

History note

  • 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89

In other languages

URI

http://www.yso.fi/onto/mesh/D015826

Download this concept:

RDF/XML TURTLE JSON-LD Created 5/15/89, last modified 7/8/13