HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

congenita Spondyloepiphyseal dysplasia

An autosomal dominant osteochondrodysplasia characterized by disproportionate short stature (short trunk), abnormal EPIPHYSES, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include MYOPIA and/or RETINAL DEGENERATION with RETINAL DETACHMENT and CLEFT PALATE. Mutations in the COL2A1 gene have been identified. OMIM: 183900
Also Known As:
Spondyloepiphyseal dysplasia, congenita; SED Congenita; Sed, Congenital Type; Spondyloepiphyseal Dysplasia Congenita; Spondyloepiphyseal dysplasia, congenital type
Networked: 35 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Achondrogenesis type 2
2. Achondrogenesis
3. Hypochondrogenesis
4. Osteogenesis Imperfecta (Lobstein Disease)
5. type 1 Stickler syndrome

Experts

1. Baujat, Geneviève: 1 article (01/2021)
2. Chen, Chia-Hsiang: 1 article (01/2021)
3. Chen, Peng-Chieh: 1 article (01/2021)
4. Chou, Yen-Yin: 1 article (01/2021)
5. Cormier-Daire, Valérie: 1 article (01/2021)
6. Couloigner, Vincent: 1 article (01/2021)
7. Fauroux, Brigitte: 1 article (01/2021)
8. Griffon, Lucie: 1 article (01/2021)
9. Khirani, Sonia: 1 article (01/2021)
10. Li, Chia-Yi: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to congenita Spondyloepiphyseal dysplasia:
1. Collagen Type II (Type II Collagen)IBA
2. GlycosaminoglycansIBA
3. Glycine (Aminoacetic Acid)FDA LinkGeneric
4. Anesthetics (Anesthetic Agents)IBA
5. alpha2 Subunit Collagen Type IIBA
6. Collagen Type I (Type I Collagen)IBA
7. Hydroxylamine (Hydroxylamine Hydrochloride)IBA
8. Complementary DNA (cDNA)IBA
9. Growth Hormone (Somatotropin)IBA
10. Serine (L-Serine)FDA Link

Therapies and Procedures

1. Mechanical Ventilators (Ventilator)
2. Osteotomy
3. General Anesthesia
4. Herniorrhaphy
5. Therapeutics