Langer Giedion Syndrome Diseases Database

Description: "Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE)." 2 synonyms or equivalents were found. Langer-Giedion syndrome aka/or Trichorhinophalangeal syndrome type 2 may cause or feature Symptoms and Signs Cutaneous laxity Exostoses Joint hypermobility Microcephaly X-ray abnormalities Exostoses Psychiatric conditions Learning disability belong(s) to the category of Autosomal dominant conditions