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 or feature Symptoms and Signs Cutaneous laxity Exostoses ...

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 five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from ...

The following is a general description of Langer-Giedion Syndrome (LGS), also known as Trichorhinophalangeal Syndrome Type II (TRPS2). LGS is characterized by the following three features which are seen in almost all LGS cases: Cranio-facial abnormalities. These include large, laterally protruding ears, broad nasal bridge and bulbous nose, elongated upper lip with thin upper vermillion border, broad eyebrows, sparse hair and mild microcephaly. Multiple cartilaginous exostoses. These are ...

Synonyms Alè-Calò syndrome Langer-Giedion syndrome acrodysplasia-dysostoses syndrome multiple exostoses-mental retardation (MEMR) syndrome trichorhino-auriculophalangeal multiple exostoses (TRAMPE) dysplasia trichorhinophalangeal dysplasia 2 Multiple exostoses with cone-shaped epiphyses, peculiar facies (mainly microcephaly, bulbous nose with thick septum and alae, and sparse hair), loose redundant skin, and mental retardation.

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 (608177) genes. TRPS type II combines the clinical features of trichorhinophalangeal syndrome type I ...

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 (brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones ...

The University of Houston TRPSII/LGS Homepage This page is an attempt consolidate information and resources relevant to Tricho-Rhino-Phalangeal Syndrome Type II, also known as Langer-Giedion Syndrome. I eventually hope it will be a site that research scientists, clinicians, M.D.'s as well as affected individuals and families and friends of affected individuals will find useful. It will be updated and improved as often as possible. (last update 2003)