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Disease Langer-Giedion Syndrome

Name Langer-Giedion Syndrome
Synonyms Acrodysplasia V | Acrodysplasia Vs | CHROMOSOME 8q24.1 DELETION SYNDROME | Giedion Langer Syndrome | Giedion-Langer Syndrome | Langer Giedion Syndrome | LANGER-GIEDION SYNDROME | LGS | Syndrome, Giedion-Langer | Syndrome, Langer-Giedion | Trichorhinophalangeal Syndrome Type 2 | Trichorhinophalangeal Syndrome Type II | Trichorhinophalangeal Syndrome, Type II | Tricho Rhino Phalangeal Syndrome Type II | Tricho-Rhino-Phalangeal Syndrome Type II | Trichorhinophalangeal Syndrome with Exostoses | TRPS2 | TRPSII
Definition 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).
Categories Musculoskeletal disease
MeSH® ID D015826
OMIM® ID 150230
External Links

Top ↑ Ancestors

DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Langer-Giedion Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Langer-Giedion Syndrome Has associated chemicals Has associated genes
  Trichorhinophalangeal Syndrome, Type I Has associated chemicals Has associated genes