progeria - Memidex dictionary/thesaurus progeria Definition: a rare abnormality marked by premature aging (gray hair, wrinkled skin, and stooped posture) in a child Class: Modern Latin from Greek progērōs, prematurely old from pro, before + gēras, old... (Source: New World Dictionary) [more] Definition references Wikipedia: Progeria | Hutchinson Gilford Progeria Syndrome | Progeria syndrome an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The word progeria comes from the Greek words "pro", meaning "before" or "premature", and "gēras", meaning "old age". The disorder has a... progeria [pathology] any of several rare human disorders associated with premature aging. The two major types of progeria are Hutchinson-Gilford syndrome, which has its ... (22 of 457 words) progeria [medicine] premature old age, a rare condition occurring in children and characterized by small stature, absent or greying hair, wrinkled skin, and other signs ...

(23 of 229 words, 1 usage example, pronunciation) Oxford Dictionary: progeria Syllabification: (pro·ge·ri·a) | [medicine] | a rare syndrome in children characterized by physical signs and symptoms suggestive of premature old ... (18 of 49 words, 3 definitions, pronunciation) a rare syndrome in children characterized by physical symptoms suggestive of premature old age (14 of 45 words, pronunciation) American Heritage Dictionary: progeria | Hutchinson-Gilford syndrome A rare congenital disorder of childhood that is characterized by rapid onset of the physical changes typical of old age, usually resulting in death ... (24 of 45 words, pronunciation) Merriam-Webster: progeria a rare genetic disorder of childhood marked by slowed physical growth and characteristic signs (as baldness, wrinkled skin, and atherosclerosis) of ...

(21 of 40 words, pronunciation) Progeria Plagues This 5-Year-Old, and His 7-Year-Old Sibling - The Quint Progeria Plagues This 5-Year-Old, and His 7-Year-Old Sibling The Quint December 17, 2015, 1:48 pm The lives of two children in Ranchi have been plagued by an extreme genetic disorder called Progeria. As a result of the disease, five-year-old Pinku and his seven-year-old sister Anjali Kumar look older than their age. The rare syndrome in children is characterised by physical symptoms suggestive of premature old age. On consulting doctors, the parents were asked to take the children to the US. The couple, who struggles to make ends meet, said they could not afford the travel costs and avail the expensive treatment. Usually, people with such disorders do not have a long life. Download TheQuint App Genetic Disorder: Progeria - What is Progeria? Genetic Disorder: Progeria Treatments/ Cures Progeria is a rare syndrome in children that is characterized by physical signs and symptoms that are suggestive of premature old age.

It is very fatal and children diagnosed with it die in their teenage years. Progeria is also a genetic disorder that is caused by a mutation of the gene LMNA. Create a free website Genetic disorder plagues lives of children in Ranchi | ANI News Videos Genetic disorder plagues lives of children in Ranchi Ranchi, Dec 17 (ANI): The lives of two children in Ranchi have been plagued by an extreme genetic disorder called Progeria. As a result of the disease, five-year-old Pinku and his seven-year-old sister Anjali Kumar look older than their ages. The rare syndrome in children is characterized by physical symptoms suggestive of premature old age. On consulting doctors, the parents were asked to take the children to U.S. The couple, who struggles to meet ends, said they could not afford a travel to U.S. and avail the costly treatment. Experts said that the disorder was either hereditary or a result of excess fluoride in water. Usually, people with such disorders do not have a longer life.

Learning About Progeria - National Human Genome Research Institute (NHGRI) National Human Genome Research Institute Enter word(s) to search NIH researchers find new clues about aging June 13, 2011 Proceedings of the National Academy of Sciences, Oct. 6, 2008 Additional Resources for Progeria Information What do we know about heredity and progeria? Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. The condition, which derives its name from "geras," the Greek word for old age, is estimated to affect one in 4 million newborns worldwide. The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904. As newborns, children with progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age.

While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people: stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. However, various other features associated with the normal aging process, such as cataracts and osteoarthritis, are not seen in children with progeria. Some children with progeria have undergone coronary artery bypass surgery and/or angioplasty in attempts to ease the life-threatening cardiovascular complications caused by progressive atherosclerosis. However, there currently is no treatment or cure for the underlying condition. Death occurs on average at age 13, usually from heart attack or stroke. In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A (LMNA). Parents and siblings of children with progeria are virtually never affected by the disease.

In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell's nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy.

In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans' normal aging process. Top of page Is there a test for progeria? A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life. This genetic test now enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process. This genetic test for Hutchinson-Gilford progeria syndrome also serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that therefore it is unlikely that any future offspring would have the condition. Top of page NHGRI Clinical Research on Progeria Researchers at NHGRI and their collaborators in the Progeria Research Consortium are currently exploring the next steps in understanding the cause of this disease, and possible ways of developing new treatments.

This work includes creation of a mouse model of the disease, as well as the possibility of using existing drugs to block or reduce production of the abnormal lamin A protein in children with progeria. Another approach being contemplated is the use of high-throughput screening technology to identify chemical compounds that might reverse nuclear membrane abnormalities of the type seen in the cells of children with progeria. A fact sheet from the National Institutes of Health Summary FAQ from the Genetics Home Reference at the National Library of Medicine. OMIM reference page from Johns Hopkins University and NCBI. Information, support, news and more from the Progeria Research Foundation. Information from the Genetics and Rare Diseases Information Center. Meet Four-Year-Old Boy Who Looks Like An 80-Year-Old | 9JA VOICESITE Uncategorized Meet Four-Year-Old Boy Who Looks Like An 80-Year-Old four-year-old Bayezid Hossain has been born with an incredibly rare condition that has left him looking like an 80-year-old man . The little boy’s condition means he suffers from a swollen face, sagging skin, aching joints and hollow eyes – which he may never find a cure for.

Bayezid, from outside Magura in southern Bangladesh, also has difficulties passing urine and already has weak and broken teeth. Children in his village, where he is affectionately referred to as ‘old man,’ were afraid to play with him at first – even though his father says he is much smarter than others the same age. BANGLADESH  JULY, 15, 2016 : Four-year-old Bayezid Hossain outside his house in Khalia, Bangladesh. Bayezid suffers a rare genetic disease which causes him to age faster than normal. The rare syndrome in children is characterized by physical symptoms suggestive of premature old age. Photography by : Cover Asia Press / Qamruzzaman His devastated parents have been told Bayezid is unlikely to live past the age of 15 due to rare condition Progeria and Cutis Laxa. His 18-year-old mother, Tripti Khatun, who was only aged 14 when she gave birth to him, is amazed at her son’s mental abilities but is devastated when she looks at him – even saying he “looked like an alien” when he was born.

She said: “Bayezid only learned to walk aged three but he had a full set of teeth at three months old. Robot doctors will perform one in three surgeries ‘within five years’ to help exhausted medics “His physical growth is completely abnormal but mentally, he has wonderful conversation, very aware and is very intuitive for his age. “He does not look like other children. He looks like an old man. As a first time mother I can’t bear the pain of seeing my child like this.” When Bayezid was born at a government maternity hospital, in 2012, Tripti and her husband Lovelu Hossain, 22, were devastated but doctors had no idea how to treat him. Tripti said: ‘I was terrified to see him when he was born. He was just flesh and bones. He looked like an alien and it was heartbreaking for me. Doctors had no idea what to do, they said they had never seen such a baby. They warned us that there was nothing they could do.’ After they returned home news of little Bayezid quickly spread around the village with neighbours lining up outside their home to take a look at Bayezid. But there was little support.

BANGLADESH  JULY, 15, 2016 : Four-year-old Bayezid Hossain with his mother Tripti Khatun, 18. Bayezid suffers a rare genetic disease which causes him to age faster than normal. He is pictured at his residence in Khalia village in Bangladesh. The rare syndrome in children is characterized by physical symptoms suggestive of premature old age. Photography by : Cover Asia Press / Qamruzzaman People feared being close to him and often gossiped about the couple’s capabilities as parents. Tripti married Lovelu, who works as a daily wage labourer and earns Rs 5,000 (£50) a month, when she was just 13-years-old. They are first cousins, which is normal practice in rural parts of Bangladesh and southern Asia and now live with Lovelu’s parents, grandfather Hashem Shikdar, 50, and grandmother Ayesha Begum, 40. As Bayezid grew older both his personality and body developed much faster than other children in his village. Tripti added: ‘He’s very stubborn and knows what he wants, and he gets very impatient.

But he’s playful, his mind is very sharp, and he’s full of conversation.’ As time has passed his neighbours have slowly gotten used to his presence and have now fondly tagged him the ‘old man’. Bayezid doesn’t go to school but he loves to play with his ball, drawing on paper, and even breaking his toys so he can fix them back up again. Lovelu said he has already spent approximately Rs 4 Lakh (£4,000) since Bayezid was born on seeing different doctors and healers but nothing has changed for the little boy. He added: ‘We’ve been to hospitals, shrines, fakirs, shamans— whoever suggested whatever. Yet his situation remains the same and he’s probably getting even worse day by day. Debashis Bishwas, a consultant from Magura Central Hospital, in Magura, met with Bayezid last month and believes he is suffering from an element of Progeria and Cutis Laxa but fears he may only live for 15 years. He said: ‘”His signs suggest he is suffering from a very difficult disease. “The skin of a Progeria patient start getting loosened like an elderly person months after birth.

“We can only advise the family to get specialized care in a hospital like Dhaka Medical College Hospital or Bangabandhu Sheikh Mujib Medical University in Dhaka, as there’s no treatment here.” Lovelu understands there may not be a cure for his son’s condition but he fears their poor condition means Bayezid is not getting the best possible chance of survival. He added: “His mother is in uncontrollable tears all the time. It has been four years now and nothing has changed. “It is so painful to see that our first child suffers a disease we cannot even treat. “We’d like more children but we’re too scared. “We feel very helpless. Like every other parent, we want our baby to live a long and healthy life but we feel only a miracle will save us now.” Credit: Mirror.Co.UK Hutchinson-Gilford Progeria Clinical Presentation: History, Physical, Causes Hutchinson-Gilford Progeria Clinical Presentation Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD more... Share Presentation History Evidence of Hutchinson-Gilford progeria syndrome (HGPS) begins within the first 2 years of life.

At birth, infants usually appear healthy, although sclerodermatous skin changes have been noted in some patients. Typically, the onset of the disease occurs at age 6-12 months, when skin changes and alopecia are first noted and when the infant fails to gain weight. The following are other suggestive findings [ 13 ] : High-pitched voice Short stature and low weight for height, with prenatal onset of growth failure Incomplete sexual maturation Generalized osteoporosis and pathologic fractures Feeding difficulties Delayed dentition, anodontia, hypodontia, or crowding of teeth Low-frequency conductive hearing loss Hypertension Prolonged prothrombin time, elevated platelet counts, and elevated serum phosphorus levels Emotionally, patients with HGPS share the same feelings as age-matched healthy persons with regard to expressing proper mood and affect. Patients with HGPS are keenly aware of their different appearance and remain reserved in the company of strangers; in the presence of friends, they display affection and good social interaction. Intelligence is normal.

Next: Physical The characteristic clinical findings of Hutchinson-Gilford progeria syndrome (HGPS) include abnormalities of the skin and hair in conjunction with characteristic facial features and skeletal abnormalities. [ 14 ] The composite appearance of the characteristic facies and parieto-occipital alopecia creates a "plucked-bird" appearance. Evidence of significant growth failure manifests within the first 1-2 years of life and prenatal growth failure is often apparent. [ 15 ] The skeletal anomalies are best characterized as a skeletal dysplasia and are thought to be related to microvascular insufficiency and extracellular matrix abnormalities. [ 15 ] Skin and hair findings are as follows: Sclerodermatous skin changes involving the trunk and extremities (see the images below) but sparing the face: These are usually present within the first 6-12 months of life, although they may be present at birth. The skin changes manifest as indurated, shiny, inelastic skin as depicted in the images below.

[ 16 ] Prominent scalp veins Generalized lipodystrophy with loose, aged-appearing skin: Areas of skin may appear loose, wrinkled, and aged because of the loss of subcutaneous fat, particularly over the hands and feet. Progressive frecklelike hyperpigmentation in sun-exposed areas Hair loss: Scalp hair and eyelashes are progressively lost, resulting in baldness with only a few vellus hairs remaining. Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant with Hutchinson-Gilford progeria syndrome has indurated, shiny skin and mild joint contractures involving the extremities and trunk. Characteristic facies are as follows (see the image shown below): Protruding ears with absent lobes Beaked nose Thin lips with centrofacial cyanosis Prominent eyes Frontal and parietal bossing with pseudohydrocephaly Large anterior fontanel Early Hutchinson-Gilford progeria syndrome. Note the alopecia, prominent scalp veins, and frontal bossing apparent in this 12-month-old infant with Hutchinson-Gilford progeria syndrome.

Midface hypoplasia and micrognathia are less apparent. Oral and craniofacial anomalies are as follows: Midface hypoplasia with micrognathia Stiff auricular cartilage, small or absent lobules, shortened ear canals [ 18 ] Musculoskeletal abnormalities are as follows: Thin limbs with prominent joints Joint contractures and coxa valga with mild flexion of the knees resulting in a wide gait and "horse-riding" stance as depicted in the image below Pyriform (pear-shaped) thorax with short, dystrophic clavicles Bilateral hip dislocations Avascular necrosis of the femoral head Enlarged joints, mild flexion contractures, and sclerodermatous skin changes are seen in this 12-month-old infant with Hutchinson-Gilford progeria syndrome. Other reported anomalies are as follows: Dystrophic nails Next: Causes Hutchinson-Gilford progeria syndrome (HGPS) is related to aberrant processing of the nuclear envelope protein lamin A and accumulation of a farnesylated, truncated prelamin A (progerin).

[ 19 ] Autosomal dominant mutations in the LMNA gene, located on band 1q21.1-1q21.3, are responsible for most cases of HGPS. De novo mutations associated with advanced paternal age are responsible for most cases, although maternal transmission of a mutant LMNA gene from an asymptomatic mother who manifested somatic and gonadal mosaicism has also been reported. In addition, autosomal recessive transmission has also been suggested to account for the reported development of HGPS in several sets of siblings born to unaffected parents. The LMNA genes encodes the nuclear A-type lamins, which are type V intermediate filament proteins that localize to the cell nucleus and form the nuclear lamina, a structure that supports the nuclear envelope. They are important in maintaining nuclear stability and organizing nuclear chromatin. The nuclear lamins also play a role in regulating gene expression, DNA synthesis, and DNA repair. [ 20 ] The most common LMNA mutation and the one associated with classical HGPS involves a C-->T transition at nucleotide 1824 (G608G).

Note the following: This substitution results in the activation of a cryptic splice donor site in exon 11, which results in a 150-base pair deletion and a truncated lamin A protein, called progerin. The abnormal progerin protein acts in a dominant-negative manner to prevent the normal assembly of nuclear lamins into the nuclear lamina. After translation, the mutant preprogerin protein undergoes normal farnesylation of a CAAX tetrapeptide motif located at the carboxyterminus. The farnesylated preprogerin protein is then incorporated into the nuclear membrane. However, the mutant, truncated protein lacks an important posttranslational processing signal required for cleavage of the preprogerin protein at the carboxyterminus. This cleavage is required for the release of prelamin A from the nuclear membrane, thus allowing its incorporation into the nuclear lamina. The abnormal progerin protein forms insoluble cytoplasmic aggregates. As a result of the absence of lamin A in the nuclear lamina, the cell nuclei from HGPS patients display abnormal nuclear blebbing and aberrant nuclear shapes. Abnormal chromosome segregation and delayed onset and progression of mitosis have also been demonstrated.

[ 21 , 22 ] The presence of the homozygous missense mutation G1626C (K542N) in LMNA was demonstrated in 5 siblings born to asymptomatic, consanguineous carrier parents. This study confirms that autosomal recessive inheritance of HGPS can also occur. A transgenic mouse model for HGPS has been created by introducing a splicing defect into intron 9 of the mouse LMNA gene. [ 23 ] Transgenic mice display many of the features of HGPS, including loss of subcutaneous fat, decreased bone density, growth failure, craniofacial deformities, skeletal abnormalities, and early death. Using microarray analyses, 3 recent studies. [ 24 , 25 , 26 ] compared the gene expression profiles of cultured fibroblasts from patients with progeria with those of healthy people of various ages. In general, changes in gene activity detected in older patients correlated with changes in gene activity in progeria patients. Of the genes expressed differentially in progeria patients, several that help control mitosis were down-regulated.

Many genes that control cell division and DNA or RNA synthesis and processing were also shown to be down-regulated in progeria patients; many of these changes are also seen with normal aging. Some of these changes were postulated to lead to genetic instability and a variety of disturbances in gene function. Changes were also seen in the expression of many genes involved in collagen remodeling and the formation of the extracellular matrix. In general, the changes favored excess extracellular matrix deposition, which may lead to the characteristic changes seen in the skin and the vasculature in progeria patients. Expression of transforming growth factor-beta, a factor that regulates tissue homeostasis and whose sustained expression is responsible for tissue fibrosis, is highly up-regulated in patients with progeria. The expression of several transcription factors, including many involved in musculoskeletal development, were also decreased in progeria patients. Expression of MEOX/GAX, a negative regulator of cell proliferation in mesodermal tissue, is elevated almost 30-fold in patients with HGPS, suggesting a contributory role in the development of the musculoskeletal abnormalities seen in HGPS. A characteristic finding in persons with progeria is an increase in hyaluronic acid excretion.

In addition to persons with progeria, it is only detected in those with Werner syndrome, a disease characterized by a later onset of premature aging that occurs during the second decade of life. Usually, hyaluronic acid and other glycosaminoglycan production increases during the fifth to seventh decades of life. Possibly, the increase in hyaluronic acid is a normal feature of advancing age. Fibroblasts from patients with progeria show a 3-fold increase in total glycosaminoglycan production and, in particular, hyaluronic acid production, compared with age-matched control groups. This increase results from an abnormality in degradation and is not caused by increased synthesis. Data from embryonic development suggest that changes in the level of hyaluronic acid are extremely important for morphological development. Experiments performed in chick embryos have demonstrated a correlation between cell differentiation and hyaluronic acid degradation. Hyaluronic acid is also necessary for the morphologic development of blood vessels in chick embryos. A reduction or absence of blood vessels is noted in regions of high hyaluronic acid levels.

The decreased density of vasculature, sclerodermatous changes in the skin, and the high prevalence of cardiovascular disease present in persons with progeria may be induced by increased hyaluronic acid levels. Increased hyaluronic acid levels may also promote calcification of blood vessels, thus contributing to arteriosclerosis. In the past, studies of the link between progeria and aging (among other topics) have investigated the role of fibroblast life span. Cells from older donors exhibit a reduced number of cell divisions in comparison to younger donor cells. The reduction of life span in cultured fibroblasts derived from patients with progeria has revealed inconsistent results. A significant reduction in fibroblast life span has been claimed in some studies but has been questioned in later investigations. A recent thorough study indicates the life span of fibroblasts in culture is independent of donor age. Further abnormalities observed in cultured fibroblasts from patients with progeria include reduced mitotic activity, DNA synthesis, and cloning efficiency and a reduced capacity for DNA repair in cultured progeria fibroblasts after gamma irradiation.

Mutant fibroblasts have been shown to demonstrate impaired DNA damage checkpoint signaling, which results in increased DNA double-strand breaks. [ 27 ] Previous References Hutchinson J. A case of congenital absence of hair with atrophic condition of the skin and its appendages. Lancet. 1886. 1:923. Hutchinson J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Transactions of the Medico-Chirurgical Society of Edinburgh. 1886. 69:473-7. Gilford H. On a condition of mixed premature and immature development. Medico-Chirurgical Transactions. 80:17-45. Gilford H. Progeria: a form of senilism. Practitioner. 1904. 73:188-217. Gilford H. Ateliosis and progeria: contniuous youth and premature old age. Br Med J. 1904. 2:914-8.

Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, et al. Hutchinson-gilford progeria is a skeletal dysplasia. J Bone Miner Res. 2011 Jul. 26(7):1670-9. [Medline] . Ding SL, Shen CY. Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes. Clin Interv Aging. 2008. 3(3):431-44. [Medline] . Stehbens WE, Wakefield SJ, Gilbert-Barness E, Olson RE, Ackerman J. Histological and ultrastructural features of atherosclerosis in progeria. Cardiovasc Pathol. 1999 Jan-Feb. 8(1):29-39. [Medline] . McClintock D, Gordon LB, Djabali K. Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody. Proc Natl Acad Sci U S A. 2006 Feb 14.

103(7):2154-9. [Medline] . [Full Text] . Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, et al. Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol. 2010 Nov. 30(11):2301-9. [Medline] . [Full Text] . Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, et al. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension. 2012 Jan. 59(1):92-7. [Medline] . [Full Text] . Scaffidi P, Misteli T. Lamin A-dependent nuclear defects in human aging. Science. 2006 May 19. 312(5776):1059-63. [Medline] . [Full Text] .

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008 Feb 7. 358(6):592-604. [Medline] . Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006 Dec 1. 140(23):2603-24. [Medline] . Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics. 2007 Oct. 120(4):824-33. [Medline] . Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome. Pediatr Dermatol. 2014 Mar-Apr.

31 (2):196-202. [Medline] . Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, et al. Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes. Oral Dis. 2009 Apr. 15(3):187-95. [Medline] . [Full Text] . Guardiani E, Zalewski C, Brewer C, Merideth M, Introne W, Smith AC, et al. Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome. Laryngoscope. 2011 Oct. 121(10):2250-5. [Medline] . [Full Text] . Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A. HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches. Mech Ageing Dev. 2008 Jul-Aug. 129(7-8):449-59.

[Medline] . Dechat T, Pfleghaar K, Sengupta K, et al. Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev. 2008 Apr 1. 22(7):832-53. [Medline] . Cao H, Hegele RA. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet. 2003. 48(5):271-4. [Medline] . Dechat T, Shimi T, Adam SA, et al. Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging. Proc Natl Acad Sci U S A. 2007 Mar 20. 104(12):4955-60. [Medline] . Mounkes LC, Kozlov S, Hernandez L, Sullivan T, Stewart CL.

A progeroid syndrome in mice is caused by defects in A-type lamins. Nature. 2003 May 15. 423(6937):298-301. [Medline] . Csoka AB, English SB, Simkevich CP, et al. Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell. 2004 Aug. 3(4):235-43. [Medline] . Park WY, Hwang CI, Kang MJ, et al. Gene profile of replicative senescence is different from progeria or elderly donor. Biochem Biophys Res Commun. 2001 Apr 13. 282(4):934-9. [Medline] . Ly DH, Lockhart DJ, Lerner RA, Schultz PG. Mitotic misregulation and human aging. Science. 2000 Mar 31. 287(5462):2486-92. [Medline] .

Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. J Cell Sci. 2006 Nov 15. 119(Pt 22):4644-9. [Medline] . Almeida P, Hernandez J, Marti M, Hernandez B. What syndrome is this? Wiedemann-Rautenstrauch syndrome. Pediatr Dermatol. 2005 Jan-Feb. 22(1):75-8. [Medline] . Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, et al. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol. 2012 Sep. 42(9):1089-98. [Medline] . Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2012 Sep.

33(8):1512-8. [Medline] . Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2013 May. 34(5):1091-7. [Medline] . Sadeghi-Nejad A, Demmer L. Growth hormone therapy in progeria. J Pediatr Endocrinol Metab. 2007 May. 20(5):633-7. [Medline] . Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, et al. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in hutchinson-gilford progeria syndrome cells. Sci Transl Med. 2011 Jun 29. 3(89):89ra58. [Medline] .

Pellegrini C, Columbaro M, Capanni C, D'Apice MR, Cavallo C, Murdocca M, et al. All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype. Oncotarget. 2015 Aug 13. [Medline] . Gabriel D, Roedl D, Gordon LB, Djabali K. Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts. Aging Cell. 2015 Feb. 14 (1):78-91. [Medline] . Meta M, Yang SH, Bergo MO, Fong LG, Young SG. Protein farnesyltransferase inhibitors and progeria. Trends Mol Med. 2006 Oct. 12(10):480-7. [Medline] . Capell BC, Olive M, Erdos MR, et al. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proc Natl Acad Sci U S A.

2008 Oct 14. 105(41):15902-7. [Medline] . Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. J Med Genet. 2008 Dec. 45(12):794-801. [Medline] . Yang SH, Meta M, Qiao X, et al. A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. J Clin Invest. 2006 Aug. 116(8):2115-21. [Medline] . Yang SH, Qiao X, Fong LG, Young SG. Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation. Biochim Biophys Acta. 2008 Jan-Feb. 1781(1-2):36-9. [Medline] .

Wang Y, Ostlund C, Worman HJ. Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome. Nucleus. 2010 Jul. 1(5):432-439. [Medline] . [Full Text] . Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012 Oct 9. 109(41):16666-71. [Medline] . [Full Text] . Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, et al. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology. 2013 Jul 30. 81 (5):427-30. [Medline] .

Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, et al. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. Sci Transl Med. 2011 Jun 29. 3(89):89ra58. [Medline] . Ramos FJ, Chen SC, Garelick MG, Dai DF, Liao CY, Schreiber KH, et al. Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med. 2012 Jul 25. 4(144):144ra103. [Medline] . [Full Text] . Cenni V, Capanni C, Columbaro M, Ortolani M, D'Apice MR, Novelli G, et al. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria. Eur J Histochem. 2011 Oct 19.

55(4):e36. [Medline] . [Full Text] . Graziotto JJ, Cao K, Collins FS, Krainc D. Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. Autophagy. 2012 Jan. 8(1):147-51. [Medline] . [Full Text] . Media Gallery Early Hutchinson-Gilford progeria syndrome. Note the alopecia, prominent scalp veins, and frontal bossing apparent in this 12-month-old infant with Hutchinson-Gilford progeria syndrome. Midface hypoplasia and micrognathia are less apparent. Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant with Hutchinson-Gilford progeria syndrome has indurated, shiny skin with dyspigmentation. Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant has indurated, shiny skin with dyspigmentation.

Enlarged joints, mild flexion contractures, and sclerodermatous skin changes are seen in this 12-month-old infant with Hutchinson-Gilford progeria syndrome. Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant with Hutchinson-Gilford progeria syndrome has indurated, shiny skin and mild joint contractures involving the extremities and trunk. of 5

Question: In medicine, what is the rare syndrome in children, characterised by physical symptoms suggestive of premature old age?
Answer: Progeria