Cardiofaciocutaneous syndrome
Última actualización 21 Mar 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
Descripción
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy).
Cardiofaciocutaneous syndrome is also characterised by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse."
Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.
Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures.
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Cardio-facio-cutaneous syndrome
CFC syndrome
Related patient information and medicines
Patient information leaflet
síndrome de Ehlers-Danlos
El síndromes de Ehlers-Danlos (EDS) are a group of conditions that affect the stretchiness y strength de supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
Angina microvascular
There is no agreed definition for CSX. The underlying cause may be sudden narrowing (spas... What is cardiac syndrome X. Cardiac syndrome X (CSX) is 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 normal on coronary angiography. Other treatments for microvascular angina.
Patient information leaflet
Síndrome coronario agudo
El término 'acute coronary syndrome' (ACS) covers a range of disorders, including a heart attack (myocardial infarction) and unstable angina, that are caused by a sudden reduction of blood flow to part of the heart muscle. This is usually caused by a blood clot. Sometimes during the coronary angiogram it is possible to clear the blockage to improve.
Patient information leaflet
Pre-eclampsia
This means that should look out for any of the symptoms above after you give birth and report them to your doctor or midwife. This is called post natal pre-eclampsia. HELLP syndrome Síndrome HELLP es un complication cuál occurs in women who have severe pre-eclampsia or eclampsia. It commonly occurs between 27 and 37 weeks of pregnancy but can.
Patient information leaflet
Costilla cervical
About 1 in 100 people are born with an extra rib llamado a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
Patient information leaflet
Síndrome de Down
Síndrome de Down (also known as Down syndrome) es a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. Feeding difficulties are also very common for children with Down's ... Heart defects Around half of babies con Síndrome de Down will have a congenital heart defect (that is, a.
Lecturas adicionales y referencias
- Cardiofaciocutaneous syndrome; MedlinePlus, National Library of Medicine.
- Allanson JE, Anneren G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14.
- Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet. 2008 Apr;45(4):249-54. doi: 10.1136/jmg.2007.054460. Epub 2007 Nov 26.
- Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A. 2007 Jul 1;143A(13):1472-80. doi: 10.1002/ajmg.a.31815.
- Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658.
- Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Heron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17.
- Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.
- Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [updated 2026 May 21]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, 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/NBK1186/
- 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.
- Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6.
- Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27.
- Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec;49(12):894-9. doi: 10.1111/j.1469-8749.2007.00894.x.
- Zenker M. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. Curr Opin Pediatr. 2011 Aug;23(4):443-51. doi: 10.1097/MOP.0b013e32834881dd.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.