Costello syndrome is inherited in an autosomal dominant manner.
Specialty
Medical genetics
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.[1]: 571 Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy.[citation needed]
Beginning in early childhood, people with specific mutations on the Costello syndrome gene variant have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).
Costello syndrome was discovered by Jack Costello, a New Zealand paediatrician, in 1977.[2][3] He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977.[4]
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^"Cs description". Archived from the original on 2010-11-21. Retrieved 2010-12-29.
^"Discovery offers key to children's disease". The New Zealand Herald. 24 October 2003. Retrieved 26 September 2011.
^Costello JM (June 1977). "A new syndrome: mental subnormality and nasal papillomata". Aust Paediatr J. 13 (2): 114–8. doi:10.1111/j.1440-1754.1977.tb01135.x. PMID 907573. S2CID 24745057.
Costellosyndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized...
severe and pronounced. Costellosyndrome - Like CFC syndrome, Costellosyndrome has overlapping features with Noonan's Syndrome. However, the conditions...
syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costellosyndrome, Gorlin syndrome, (also known as basal cell nevus syndrome)...
inherited mutations in the HRAS gene have been identified in people with Costellosyndrome. Each of these mutations changes an amino acid in a critical region...
Central core disease CHARGE syndrome Cohen syndromeCostellosyndrome Dejerine–Sottas disease (HMSN Type III) Down syndrome a.k.a. trisomy 21 — most common...
KRAS, BRAF, MEK1, and MEK2 genes. Costellosyndrome is caused by mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1...
22B, severe fetal Cornelia de Lange syndrome 1, 3, and 5 Costellosyndrome Cowden syndrome 5 and 6 Cranioectodermal dysplasia 2 and 3 Craniofacial microsomia...
as a result of the movements is rare. Some infants with diagnosed CostelloSyndrome have been observed to have unique RMD episodes affecting the tongue...
as Li-Fraumeni syndrome, Neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Costellosyndrome, Noonan syndrome, and DICER1 syndrome. There are multiple...
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes...
RASopathy family of diseases, which include CostelloSyndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present with skeletal...
based on the corrupt FBI agent John Connolly, while the character Frank Costello is based on Irish-American gangster and crime boss Whitey Bulger. The film...
Turkey found associations with coeliac disease, malaria severity and Costellosyndrome. Nonetheless, some genes may have helped modern East Asians adapt...
True is the debut studio album by the English singer-songwriter Elvis Costello, originally released in the United Kingdom on 22 July 1977 through Stiff...
J. M.; Coleman, J. S.; Costello, A.; Marshall, J. C. (2001). "Organic or functional? A new case of foreign accent syndrome". Cortex. 37 (5): 715–718...
be associated with a Pre-excitation syndromes such as Wolff–Parkinson–White syndrome or Lown–Ganong–Levine syndrome, and also junctional arrhythmia like...
neurodevelopment disorders. These disorders include Apert syndrome, Achondroplasia, Noonan syndrome and Costellosyndrome. Goriely has argued that more attention needs...
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