Costello Syndrome

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Also Known As:
Faciocutaneoskeletal Syndromes; Syndrome, Costello; Syndrome, Faciocutaneoskeletal; Syndromes, Faciocutaneoskeletal; Faciocutaneoskeletal Syndrome
Networked: 78 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypothyroidism
2. Cryptorchidism (Undescended Testes)
3. Acne Vulgaris
4. Acanthosis Nigricans
5. LEOPARD Syndrome (Syndrome, LEOPARD)


1. Gripp, Karen W: 9 articles (03/2012 - 07/2004)
2. Rauen, Katherine A: 6 articles (05/2015 - 01/2006)
3. Zenker, Martin: 6 articles (01/2014 - 03/2007)
4. Hinek, Aleksander: 5 articles (08/2012 - 01/2004)
5. Niemeyer, Charlotte M: 4 articles (11/2014 - 03/2007)
6. Lin, Angela E: 4 articles (03/2012 - 02/2005)
7. Sol-Church, Katia: 4 articles (12/2009 - 08/2006)
8. Stabley, Deborah L: 4 articles (12/2009 - 08/2006)
9. Nicholson, Linda: 4 articles (03/2008 - 07/2004)
10. Bunda, Severa: 3 articles (10/2011 - 09/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Costello Syndrome:
1. Growth Hormone (Somatotropin)IBA
2. Isotretinoin (Accutane)FDA LinkGeneric
3. Chondroitin Sulfates (Chondroitin Sulfate)IBA
4. Protein Kinases (Protein Kinase)IBA
5. Proteoglycans (Proteoglycan)IBA
05/06/2015 - "Human iPSCs derived from patients with Costello syndrome differentiated to astroglia more rapidly in vitro than those derived from wild-type cell lines with normal HRAS, exhibited hyperplasia, and also generated an abundance of extracellular matrix remodeling factors and proteoglycans. "
02/15/2005 - "Previous studies with cultured fibroblasts from individuals with Costello syndrome demonstrate excessive accumulation of chondroitin sulfate-bearing proteoglycans, associated with both impaired formation of elastic fibers and an unusually high rate of cellular proliferation. "
05/06/2015 - "Acute treatment with a farnesyl transferase inhibitor and knockdown of the transcription factor SNAI2 reduced expression of several proteoglycans in Costello syndrome iPSC-derived astrocytes. "
03/01/2000 - "Because the normal association between EBP and tropoelastin can be disrupted on contact with galactosugar-bearing moieties, and the fibroblasts from patients with Costello syndrome revealed an unusual accumulation of chondroitin sulfate-bearing proteoglycans (CD44 and biglycan), we postulate that a chondroitin sulfate may be responsible for shedding EBP from Costello cells and in turn for their impaired elastogenesis. "
08/08/2008 - "Comprehensive expression analysis revealed remarkable up-regulation of several cytokines and chemokines including Gro family proteins, interleukin-1beta (IL-1beta), IL-8 and MCP-1 but down-regulation of extracellular matrix components including collagens and proteoglycans of skin fibroblasts derived from a Japanese Costello syndrome patient characterized by significantly reduced tropoelastin mRNA, impaired elastogenesis and enhanced cell proliferation. "
6. TropoelastinIBA
7. Messenger RNA (mRNA)IBA
8. MicroRNAs (MicroRNA)IBA
9. RNA (Ribonucleic Acid)IBA
10. HormonesIBA

Therapies and Procedures

1. Tonsillectomy
2. Enema (Enemas)
3. Anesthesia