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Multiple pterygium syndrome

Multiple pterygium syndromes comprise a group of multiple autosomal recessive congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (ARTHROGRYPOSIS). They are traditionally divided into prenatally lethal type (OMIM: 253290), caused by mutations in the CHRNA1, CHRND, and CHRNG genes and characterized by more severe anomalies, malignant hyperthermia, and death in utero or shortly after birth. The non-lethal (Escobar) type is milder and caused by mutations in the CHRNG gene. OMIM: 265000
Also Known As:
Escobar syndrome; Familial Pterygium Syndrome; Lethal multiple pterygium syndrome; Multiple Pterygium Syndrome, Escobar Variant; Multiple Pterygium Syndrome, Lethal Type; Multiple Pterygium Syndrome, Nonlethal Type; Multiple pterygium syndrome lethal type; Pterygium Multiple syndrome, lethal type; Pterygium Syndrome, Multiple, Lethal Type; Pterygium colli syndrome; Pterygium syndrome; Pterygium syndrome, multiple; Pterygium universale
Networked: 36 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Nemaline Myopathies (Nemaline Myopathy)
2. Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
3. Pterygium
4. Arthrogryposis
5. Cap Myopathy

Experts

1. Laing, Nigel G: 3 articles (06/2017 - 02/2013)
2. Maher, Eamonn R: 3 articles (12/2014 - 08/2006)
3. Morgan, Neil V: 3 articles (12/2014 - 08/2006)
4. Dowling, James J: 2 articles (11/2020 - 02/2013)
5. Ravenscroft, Gianina: 2 articles (06/2017 - 02/2013)
6. Kariminejad, Ariana: 2 articles (03/2016 - 01/2016)
7. Moslemi, Ali-Reza: 2 articles (03/2016 - 01/2016)
8. Tajsharghi, Homa: 2 articles (03/2016 - 01/2016)
9. Vogt, Julie: 2 articles (12/2014 - 01/2012)
10. Monnier, Nicole: 2 articles (07/2014 - 02/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple pterygium syndrome:
1. Cholinergic ReceptorsIBA
2. TropomyosinIBA
3. Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
4. Anesthetics (Anesthetic Agents)IBA
5. Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA
6. CollagenIBA
7. Interferon Regulatory FactorsIBA
8. Protein Isoforms (Isoforms)IBA
9. 1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
10. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Airway Management
2. Physical Therapy Modalities (Physical Therapy Technique)
3. Therapeutics
4. Osteotomy
5. Cesarean Section (Caesarean Section)