Costello syndrome, also called faciocutaneoskeletal syndrome, is a rare genetic disorder that affects many parts of the body. It is marked by delayed development and intellectual disability, distinctive facial features including a large mouth with full lips, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet. Heart abnormalities are common, among them a very fast heartbeat, structural heart defects and overgrowth of the heart muscle. Infants may be large at birth but then grow more slowly and have trouble feeding, and affected people tend to be short in stature. The condition is caused by mutations in the HRAS gene and is a RASopathy. It carries an increased risk of tumors, the most frequent cancer being rhabdomyosarcoma. It was first reported by the New Zealand paediatrician Jack Costello in 1977.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 3071
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the codeQuote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.8", "Source": "ICD-10"
2. National Cancer Institute (NCI Thesaurus): Costello syndrome - NCI Thesaurus concept C84652
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A genetic syndrome caused by mutations in the HRAS gene.
3. MedlinePlus Genetics (U.S. National Library of Medicine): Costello syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
It is unclear how variants in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.
4. Costello syndrome (Wikipedia)
Lead paragraph
He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977.
Genetics
Costello syndrome is caused by any of at least five different mutations in the HRAS gene on chromosome 11.
View the Source5. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 3071
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 3071Quote, Orphanet epidemiology, ORPHAcode 3071
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Class only", "PrevalenceType": "Point prevalence"
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