3C syndrome

Also Known As:

CCC dysplasia; Craniocerebellocardiac dysplasia; Dandy-Walker-like malformation with atrioventricular septal defect; Ritscher Schinzel syndrome; Ritscher-Schinzel Syndrome

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Hydrocephalus: 6916
      - Dandy-Walker Syndrome: 118
        3C syndrome: 6
    - Cerebellar Diseases: 631
      - Dandy-Walker Syndrome: 118
        3C syndrome: 6
- Nervous System Malformations: 35
  - Dandy-Walker Syndrome: 118
    - 3C syndrome: 6
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Heart Septal Defects: 41
      - Atrial Heart Septal Defects: 2183
        3C syndrome: 6
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Heart Septal Defects: 41
      - Atrial Heart Septal Defects: 2183
        3C syndrome: 6
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - 3C syndrome: 6

Related Diseases

1.	CHARGE Syndrome
2.	Glaucoma

Experts

1.	Bayat, Allan: 1 article (07/2021)
2.	Fenger, Christina D: 1 article (07/2021)
3.	Gjerulfsen, Cathrine E: 1 article (07/2021)
4.	Hammer, Trine B: 1 article (07/2021)
5.	Møller, Rikke S: 1 article (07/2021)
6.	Bu, Haisong: 1 article (05/2019)
7.	Hu, Shijun: 1 article (05/2019)
8.	Liu, Lin: 1 article (05/2019)
9.	Tan, Zhiping: 1 article (05/2019)
10.	Zhao, Tianli: 1 article (05/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 3C syndrome:

1.	Growth Hormone (Somatotropin)IBA 11/05/1999 - "The 3C syndrome: evolution of the phenotype and growth hormone deficiency."
2.	Proteins (Proteins, Gene)FDA Link 07/01/2021 - "RTSCS is subdivided into Ritscher-Schinzel syndrome 1 (RTSCS1) caused by pathogenic variants in coiled-coil domain-containing protein 22 (CCDC22), and Ritscher-Schinzel syndrome 2 (RTSCS2) caused by pathogenic variants in WASH complex subunit 5 (WASHC5). "
3.	Indicators and Reagents (Reagents)IBA 01/01/2008 - "Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome."
4.	Immunoglobulin G (IgG)IBA 10/18/2023 - "Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation."
5.	Transforming Growth Factor-beta Type I ReceptorIBA 05/01/2019 - "The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys‑Dietz syndrome caused by TGFBR1 gene mutation, Ritscher‑Schinzel/3C syndrome caused by KIAA0196 gene mutation and CHARGE syndrome caused by CHD7 gene mutation. "

Therapies and Procedures

1.	Trabeculectomy (Trabeculoplasty) 07/01/2006 - "An infant with systemic features consistent with 3C syndrome presented with glaucoma and underwent a goniotomy for each eye. "