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Costello syndrome
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Medical condition
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Subject of 6
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.
scientific article
Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
scientific article published on 01 May 2008
Germline mutations in HRAS proto-oncogene cause Costello syndrome
scientific article
Costello syndrome: an overview
scientific article
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
scientific article published on August 18, 2011
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Wikipedia

Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.:โ€Š571โ€Š...

Instance of
designated intractable/rare disease
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
autosomal dominant disease
genetic syndromic intellectual disability
Hypertrophic cardiomyopathy
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
References
Wikidata