Costello syndrome
Ultimo aggiornamento 6 Sept 2023
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Costello syndrome is a rare disorder that affects many parts of the body. This condition is characterised by delayed development, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, heart problems, short stature, and distinctive facial features.
Descrizione
Costello syndrome is a rare disorder that affects many parts of the body. This condition is characterised by delayed development, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, heart problems, short stature, and distinctive facial features.
Children with Costello syndrome are often delayed in reaching developmental milestones, such as speaking, sitting, and walking. Affected individuals may also have intellectual disabilities that can vary in severity.
Distinctive facial features in people with Costello syndrome typically include a prominent forehead, full cheeks, and full lips. Infants with Costello syndrome may be larger than average at birth, but most have difficulty eating and grow more slowly than other children. Affected individuals may have gastrointestinal problems that include constipation or a backflow of stomach acids into the esophagus (gastroesophageal reflux or GERD). People with this condition have short stature compared to their family and peers and may have reduced growth hormone levels.
Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Neurological problems in people with Costello syndrome include seizures, weak muscle tone (hypotonia), and a structural abnormality of the brain called a Chiari I malformation. Costello syndrome can cause vision problems, such as nearsightedness (myopia), farsightedness (hyperopia), or eyes that do not point in the same direction (strabismus). Hearing loss may also occur.
Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), recurrent respiratory infections, dry and thickened skin, skeletal abnormalities, and dental problems.
Beginning in early childhood, people with Costello syndrome have a higher risk of developing certain cancerous and noncancerous tumours compared to the general population. The most common noncancerous tumours associated with this condition are papillomas, which are small, wart-like growths that usually develop around the nose and mouth or near the anus. The most common cancerous tumour associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumour that arises in developing nerve cells, has also been reported in children and adolescents with this syndrome. In addition, some teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is usually seen in older adults.
The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by their genetic causes and by the specific patterns of signs and symptoms that develop later in childhood.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Faciocutaneoskeletal syndrome
FCS syndrome
Related patient information and medicines
Patient information leaflet
Costola cervicale
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical r... There are seven cervical vertebrae. For the first seven pairs of ribs, at the front, the other end of each rib is attached to some cartilage called costal.
Patient information leaflet
Morte in culla
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. Morte in culla is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
Sindrome da allergia orale
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, come hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
Angina microvascolare
There is no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) è thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
Sindrome del dolore del grande trocantere
Sindrome del dolore del grande trocantere is a condition that causes pain over the outside of the upper thigh (or both thighs) and hip. The cause is usually due to inflammation or injury to some of the tissues that lie over the bony prominence (the greater trochanter) at the top of the thigh bone (femur). Greater trochanteric pain syndrome can sometimes.
Patient information leaflet
Sindrome da cattura precordiale
Sebbene precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. What is precordial catch syndrome. Precordial catch syndrome (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Ulteriori letture e riferimenti
- Costello syndrome; MedlinePlus, National Library of Medicine.
- Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.
- Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18.
- Axelrad ME, Schwartz DD, Fehlis JE, Hopkins E, Stabley DL, Sol-Church K, Gripp KW. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. Am J Med Genet A. 2009 Dec;149A(12):2666-72. doi: 10.1002/ajmg.a.33126.
- Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A. 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078.
- Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047.
- Gripp KW, Lin AE. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f.
- Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20.
- Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet A. 2006 Oct 15;140(20):2163-9. doi: 10.1002/ajmg.a.31456.
- Gripp KW, Weaver KN. HRAS-Related Costello Syndrome. 2006 Aug 29 [updated 2026 May 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1507/
- Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27.
- Quezada E, Gripp KW. Costello syndrome and related disorders. Curr Opin Pediatr. 2007 Dec;19(6):636-44. doi: 10.1097/MOP.0b013e3282f161dc.
- Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am J Med Genet A. 2006 Aug 1;140(15):1681-3. doi: 10.1002/ajmg.a.31315. No abstract available.
- Rauen KA. HRAS and the Costello syndrome. Clin Genet. 2007 Feb;71(2):101-8. doi: 10.1111/j.1399-0004.2007.00743.x.
- Stevenson DA, Yang FC. The musculoskeletal phenotype of the RASopathies. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):90-103. doi: 10.1002/ajmg.c.30296. Epub 2011 Apr 14.
- White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. The adult phenotype in Costello syndrome. Am J Med Genet A. 2005 Jul 15;136(2):128-35. doi: 10.1002/ajmg.a.30747.
- Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.