Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)

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).

Also Known As:

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

Networked: 17 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Langer-Giedion Syndrome: 17
        Type I Trichorhinophalangeal Syndrome

Related Diseases

1.	Genetic Translocation (Chromosomal Translocation)
2.	Lymphoma (Lymphomas)
3.	Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)
4.	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)
5.	Pathologic Constriction (Stenosis)

Experts

1.	Frith, Martin C: 1 article (08/2020)
2.	Katoh, Kazutaka: 1 article (08/2020)
3.	Lei, Ming: 1 article (08/2020)
4.	Liang, Desheng: 1 article (08/2020)
5.	Matsumoto, Naomichi: 1 article (08/2020)
6.	Mitsuhashi, Satomi: 1 article (08/2020)
7.	Miyake, Noriko: 1 article (08/2020)
8.	Wu, Lingqian: 1 article (08/2020)
9.	Yang, Yifeng: 1 article (08/2020)
10.	Dekanić, Kristina Baraba: 1 article (06/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Langer-Giedion Syndrome:

1.	VimentinIBA 01/01/1985 - "In the study of both fresh and cultured cells, we demonstrated a correlation between variant chromosomal translocations and light-chain types, the cells from patients with a t(2;8) translocation expressing kappa and those with a t(8;22) expressing lambda chains, with one exception Vimentin expression was absent or weak in most BLs studied (lines or fresh cells) and in cells from patients with Langer-Giedion syndrome, in contrast to most other lymphomas and leukaemias and normal lymphoblastoid cell lines." 07/01/1984 - "However, low expression of vimentin was also found in 3 LCL derived from patients with the Langer-Giedion syndrome, which is characterized by a deletion of the distal end of chromosome 8. Treatment of vimentin-negative BLCL and Langer-Giedion LCL with azacytidine led to a transient reexpression of vimentin."
2.	DNA ProbesIBA 07/01/1989 - "The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. " 10/01/1992 - "Using polymorphic DNA probes, we have been able to exclude the disease gene from close proximity to the 8q24.1 region where a dominant syndrome with multiple exostoses, the trichorhinophalangeal syndrome type II (TRP II, Langer-Giedion syndrome, MIM 15025), has been previously localised (pairwise linkage Z = -8.96 at theta = 0 with probe L48 at locus D8S51). "
3.	Thyroglobulin FDA Link 10/01/1986 - "We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. " 12/01/1991 - "The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24.1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS. "
4.	DNA (Deoxyribonucleic Acid)IBA 08/01/2020 - "Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4." 03/23/1989 - "Here we describe the dissection of the Langer-Giedion syndrome region on chromosome 8 from GTG-banded metaphase chromosomes (G-banding with trypsin-Giemsa) and the universal enzymatic amplification of the dissected DNA. "
5.	Bone Morphogenetic Protein 1IBA 01/01/1993 - "Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome."
6.	Eukaryotic Initiation Factor-3IBA 12/01/1999 - "The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene."
7.	Collagen Type II (Type II Collagen)IBA 09/01/1993 - "Involvement of chromosomes 5, 8, and 12 may be etiologically significant because of the gene localizations for the human cartilage link protein, Langer-Giedion syndrome (a rare syndrome characterized by multiple exostoses), and type II collagen (a major component of normal cartilage) respectively, to these three chromosomes. "
8.	Complementary DNA (cDNA)IBA 10/01/1995 - "In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. "
9.	TrypsinIBA 03/23/1989 - "Here we describe the dissection of the Langer-Giedion syndrome region on chromosome 8 from GTG-banded metaphase chromosomes (G-banding with trypsin-Giemsa) and the universal enzymatic amplification of the dissected DNA. "
10.	Growth Hormone (Somatotropin)IBA 12/01/2004 - "Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency."

Therapies and Procedures

1.	Airway Management 10/01/2013 - "Unanticipated subglottic stenosis complicating airway management of a child with Langer-Giedion syndrome."
2.	Oral Pathology 11/25/2014 - "Although diagnosis and management of any maxillofacial pathology can be challenging in syndromic patients, our report suggests a possible correlation between traumatic bone cyst and Langer-Giedion syndrome. "