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Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)

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).
Also Known As:
Trichorhinophalangeal Syndrome Type II; Syndrome, Langer-Giedion; Trichorhinophalangeal Syndrome with Exostoses; Giedion Langer Syndrome; Langer Giedion Syndrome; Syndrome, Giedion-Langer; Acrodysplasia V; Giedion-Langer Syndrome
Networked: 22 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Genetic Translocation (Chromosomal Translocation)
2. Lymphoma (Lymphomas)
3. Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)
4. Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)
5. Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

Experts

1. Ostojić, Saša: 1 article (06/2015)
2. Peterlin, Borut: 1 article (06/2015)
3. Severinski, Srećko: 1 article (06/2015)
4. Maver, Aleš: 1 article (06/2015)
5. Volk, Marija: 1 article (06/2015)
6. Pereza, Nina: 1 article (06/2015)
7. Kapović, Miljenko: 1 article (06/2015)
8. Dekanić, Kristina Baraba: 1 article (06/2015)
9. Jiang, Qian: 1 article (01/2015)
10. Yan, Yuchun: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Langer-Giedion Syndrome:
1. VimentinIBA
2. ThyroglobulinFDA Link
3. DNA (Deoxyribonucleic Acid)IBA
4. Chromosome 8 deletionIBA
5. Absence of TibiaIBA
6. Bone Morphogenetic Protein 1IBA
7. Eukaryotic Initiation Factor-3IBA
8. Collagen Type II (Type II Collagen)IBA
9. Complementary DNA (cDNA)IBA
10. DNA ProbesIBA

Therapies and Procedures

1. Airway Management