Langer Giedion Syndrome (Subscribe)  

"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...

Synonym(s) Trichorhinophalangeal syndrome type 2 ICD Q87.8 Langer-Giedon syndrome or trichorhinophalangeal syndrome type 2 is characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped...

Also known as: Alè-Calò syndrome Klingmüller’s syndrome Description: Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first...

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Alternative titles; symbols LANGER-GIEDION SYNDROME; LGS Gene map locus 8q24.11-q24.13 TEXT A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome involving loss of functional copies of the TRPS1 (604386) and EXT1...

Synonyms of Trichorhinophalangeal Syndrome Type II Langer Giedion Syndrome TRPS2 General Discussion Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature (dwarfism); abnormally short fingers and toes...