Hutchinson-Gilford progeria syndrome
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Hutchinson-Gilford progeria syndrome is a genetic condition characterised by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.
Descrizione
Hutchinson-Gilford progeria syndrome is a genetic condition characterised by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.
People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
HGPS
Hutchinson-Gilford syndrome
Progeria
Progeria of childhood
Related patient information and medicines
Patient information leaflet
Sindrome del cri du chat
Cri du chat sindrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Sindrome di Gilbert
Gilbert's syndrome is due to an inherited defect in processing bilirubin in the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. Gilbert's syndrome - also known as constitutional hepatic dysfunction - is a condition.
Patient information leaflet
Costola cervicale
About 1 in 100 people sono 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 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
Sindrome nefrosica
Sindrome nefrosica is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Proctalgia fugax e dolore anale
Proctalgia fugax is a fleeting pain in the anus. It lasts less than 20 minutes, with no symptoms whatsoever in between episodes. Levator ani syndrome is a pain which lasts for longer. Both are only diagnosed when no other cause is found. What is proctalgia fugax. Proctalgia fugax is one of a number of conditions which cause anal or rectal pain.
Patient information leaflet
Disturbi dello spettro dell'ipermobilità
Hypermobility spectrum disorders include all people with what used to be called joint ipermobilità syndrome, and before that benign joint hypermobility syndrome. Anyone who has symptoms... Hypermobility spectrum disorders (HSDs) are a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred.
Ulteriori letture e riferimenti
- Hutchinson-Gilford progeria syndrome; MedlinePlus, National Library of Medicine.
- De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003 Jun 27;300(5628):2055. doi: 10.1126/science.1084125. Epub 2003 Apr 17. No abstract available.
- Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25.
- Ghosh S, Zhou Z. Genetics of aging, progeria and lamin disorders. Curr Opin Genet Dev. 2014 Jun;26:41-6. doi: 10.1016/j.gde.2014.05.003. Epub 2014 Jul 6.
- Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963-8. doi: 10.1073/pnas.0402943101. Epub 2004 Jun 7.
- Gonzalez JM, Pla D, Perez-Sala D, Andres V. A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. Front Biosci (Schol Ed). 2011 Jun 1;3(3):1133-46. doi: 10.2741/216.
- Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [updated 2025 Mar 13]. 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/NBK1121/
- Halaschek-Wiener J, Brooks-Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A Biol Sci Med Sci. 2007 Jan;62(1):3-8. doi: 10.1093/gerona/62.1.3.
- Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006 Dec 1;140(23):2603-24. doi: 10.1002/ajmg.a.31346.
- Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet. 2004 Nov;66(5):375-81. doi: 10.1111/j.1399-0004.2004.00315.x.
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.