"Werner syndrome Werner syndrome (WS), also known as ""adult progeria"", is a rare, autosomal recessive disorder which is characterized by the appearance of premature aging. Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904. It has a global incidence rate of less than 1 in 100,000 live births (although incidence in Japan and Sardinia is higher, affecting 1 in 20,000–40,000 and 1 in 50,000, respectively). 1,300 cases had been reported as of 2006. Affected individuals typically grow"
"Weaver syndrome Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation, and distinctive craniofacial, skeletal, and neurological abnormalities. It was first described by Dr. David Weaver in 1974. It is similar to Sotos syndrome. Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may include several, but not all of the following features: Other features may include loose skin, thin deep-set nails, thin hair, short ribs,"
"GAPO syndrome was reported by Anderson and Pindborg in 1947. Another case wasn't recorded until 1978 by Fuks ""et al."" GAPO syndrome GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30-40, due to"
"stature, in spite of a few being of normal height Acrogeria Acrogeria (also known as Gottron's syndrome) is a cutaneous condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). The prefix ""acro"" stems from the Greek ""akros"" which alludes to ""extremity, tip"" while the suffix ""geria"" comes from the Greek ""gerôn"" which means ""elder"". This is one of the classic congenital premature aging syndromes, occurring early in life, among which are: pangeria (Werner's syndrome), progeria (Hutchinson–Gilford's syndrome) and acrogeria (Gottron's syndrome) and was characterized in 1940. Onset"
"Acrogeria Acrogeria (also known as Gottron's syndrome) is a cutaneous condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). The prefix ""acro"" stems from the Greek ""akros"" which alludes to ""extremity, tip"" while the suffix ""geria"" comes from the Greek ""gerôn"" which means ""elder"". This is one of the classic congenital premature aging syndromes, occurring early in life, among which are: pangeria (Werner's syndrome), progeria (Hutchinson–Gilford's syndrome) and acrogeria (Gottron's syndrome) and was characterized in 1940. Onset is in early childhood, it progresses over the next few"
"the epigenetic clock for skin & blood samples Progeria Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. Progeria is one of several progeroid syndromes. Those born with progeria typically live to their mid-teens to early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited, as carriers usually do not live to reproduce. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically"
"contribute significantly. CHILD syndrome occurs almost exclusively in females. Only 2 known cases have been reported in males, one having a normal 46,XY karyotype, suggesting an early postzygotic somatic mutation. Because CHILD syndrome is a congenital disorder, the symptoms may be present at birth or may develop during the first few weeks of life and continue for the lifetime of the patient. The earliest recorded case of CHILD syndrome was in 1903. Otto Sachs was accredited for first describing the clinical characteristics of the syndrome in an 8-year-old girl. The nearest proceeding news on the topic was a report in"
"Cortes Lacassie syndrome Cortes Lacassie syndrome is a rare disease that is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet. It is named after Fanny Cortes and Yves Lacassie, two researchers from the University of Chile who discovered the disease in 1986. Cortes Lacassie syndrome is considered a rare disease and has only been recorded in one case, leading to death at 31 months. This disease is characterized by agenesis of fingers and toes, and hypotrophy of fingernails at birth. At 3 months, the baby exhibited delayed psychomotor development and developed myoclonic seizures. Chromosomal"
"Progeria Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. Progeria is one of several progeroid syndromes. Those born with progeria typically live to their mid-teens to early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited, as carriers usually do not live to reproduce. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson–Gilford progeria syndrome (HGPS). Progeria"
"GAPO syndrome GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30-40, due to interstitial fibrosis and atherosclerosis. One of the principle symptoms of GAPO syndrome is growth retardation, caused by slow skeletal formation"
"Infantile apnea Infantile apnea is a rare disease that is characterized by cessation of breathing in an infant for at least 20 seconds or a shorter respiratory pause that is associated with a slow heart rate, bluish discolouration of the skin, extreme paleness and/or decreased muscle tone. Infantile apnea occurs in children under the age of one and it is more common in premature infants. Symptoms of infantile apnea occur most frequently during the rapid eye movement (REM) stage of sleep. The nature and severity of breathing problems in patients can be detected in a sleep study called a polysomnography"
"Acrocallosal syndrome Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. It is associated with ""GLI3"". Acrocallosal syndrome (ACLS, ACS, Schinzel-Type, Hallux-duplication) is a rare, heterogeneous [3] autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy . To inherit ACLS, one gene copy from each parent must contain a mutation somewhere in the KIF7 gene and be passed on to the child [3]. Characteristics of this syndrome"
"of the nucleus, by acting as a scaffold protein that forms a filamentous meshwork underlying the inner nuclear envelope, the membrane that surrounds the nucleus. ""Hutchinson–Gilford progeria syndrome"" is an extremely rare developmental autosomal dominant condition, characterized by premature and accelerated aging (~7 times the normal rate) beginning at childhood. It affects 1 in ~4 million newborns; over 130 cases have been reported in the literature since the first described case in 1886. The mean age of diagnosis is ~3 years and the mean age of death is ~13 years. The cause of death is usually myocardial infarction, caused by"
"(ACC) is a rare congenital disorder that is one of the most common brain malformations observed in human beings, in which the corpus callosum is partially or completely absent. ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as a milder condition in young adults, or as an asymptomatic incidental finding. Initial symptoms of ACC usually include seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking. Other possible symptoms may include impairments in mental and physical development,"
"with: Marshall–Smith syndrome Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties. The syndrome is a rare clinical disorder. The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1). Respiratory complications are often cause of death in early infancy. Marshall–Smith syndrome is not to be"
"live into their teen years. Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s. Another name for Jeune syndrome is ""asphyxiating thoracic dystrophy"". This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome (TIS). Asphyxiating thoracic dysplasia Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as ""Jeune syndrome"". It was described in 1955. Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome"
"Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) "", also known as primary lateral sclerois (PLSJ),"" is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. The disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms of JPLS begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they"
"Nodding disease Nodding disease or nodding syndrome is a recent, little-known disease which emerged in Sudan in the 1960s. It is a mentally and physically disabling disease that only affects children, typically between the ages of 5 and 15. It is currently restricted to small regions in South Sudan, Tanzania, and northern Uganda. Prior to the South Sudan outbreaks and subsequent limited spread, the disease was first described in 1962 existing in secluded mountainous regions of Tanzania, although the connection between that disease and nodding syndrome was only made recently. Children affected by nodding disease experience a complete and permanent"
"Marshall–Smith syndrome Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties. The syndrome is a rare clinical disorder. The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1). Respiratory complications are often cause of death in early infancy. Marshall–Smith syndrome is not to be confused"
"Progeroid syndromes Progeroid syndromes (PS) are a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. The term ""progeroid syndrome"" does not necessarily imply progeria (Hutchinson–Gilford progeria syndrome), which is a specific type of progeroid syndrome. ""Progeroid"" means ""resembling premature aging"", a definition that can apply to a broad range of diseases. Familial Alzheimer's disease and familial Parkinson's disease are two well-known accelerated-aging diseases that are more frequent in older individuals. They affect only one tissue and can be classified as unimodal progeroid syndromes. Segmental progeria, which is more frequently"
"require wheelchairs to move, so an assistant would be needed at all times. Those with micro syndrome are born appearing normal. At the age of one, mental and physical delays become apparent, along with some limb spasms. By the age of eight micro syndrome has already set in, and the patient will have joint contractures, Ocular Atrophy will become noticeable, the patient will most likely lose ability to walk, speak, and sometimes move at all. Micro syndrome Micro syndrome also known as WARBM, and Warburg–Sjo–Fledelius syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, intellectual"
"study indicated no abnormalities. The baby developed acute epileptic seizures, acute renal failure, and hepatorenal syndrome, passing away at 31 months. Cortes Lacassie syndrome is a form of ectodermal dysplasia, postulated to be a new type of the group of tricho-odonto-onychic disorders. Cortes Lacassie syndrome Cortes Lacassie syndrome is a rare disease that is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet. It is named after Fanny Cortes and Yves Lacassie, two researchers from the University of Chile who discovered the disease in 1986. Cortes Lacassie syndrome is considered a rare disease and has"
"Diencephalic syndrome Diencephalic syndrome, diencephalic syndrome of emaciation or Russell's syndrome is a rare neurological disorder seen in infants and children and characterised by failure to thrive and severe emaciation despite normal or slightly decreased caloric intake. Classically there is also locomotor hyperactivity and euphoria. Less commonly diencephalic syndrome may involve skin pallor without anaemia, hypoglycaemia, and hypotension. The syndrome is a rare but potentially fatal cause of failure to thrive in children. Failure to thrive presents on average at 7 months of age. Of note the syndrome is not associated with developmental delay. There may be associated hydrocephalus. Diencephalic"
"Landau–Kleffner syndrome Landau–Kleffner syndrome (LKS)—also called infantile acquired aphasia, acquired epileptic aphasia or aphasia with convulsive disorder—is a rare childhood neurological syndrome. It is named after William Landau and Frank Kleffner, who characterized it in 1957 with a diagnosis of six children. The Landau–Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electroencephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech (Broca's area and Wernicke's area). The disorder usually occurs in children between the ages of 3 and 7 years. There appears"
"Young–Simpson syndrome Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation. Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome, showing that it is quite difficult to diagnose the correct condition based on the symptoms present. Some doctors therefore consider these syndromes to be the same."
"Fitzsimmons–Guilbert syndrome Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible. Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal"
"was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson–Gilford progeria syndrome. The word ""progeria"" comes from the Greek words ""pro"" (πρό), meaning ""before"" or ""premature"", and ""gēras"" (γῆρας), meaning ""old age"". Scientists are interested in progeria partly because it might reveal clues about the normal process of aging. Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional"
"symptoms. Since its discovery in 1976, only 40 citations have been found in modern literature. In order to treat patients, the aggressive therapy strategy approach must always be taken for acute bacterial infections and prophylactic antibiotics. This assists in minimising possible effects and prolonging life expectancy. It is named after Claude Griscelli, professor of pediatrics at Hôpital Necker Enfants-Malades in Paris (France). Griscelli syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs"
"Primrose syndrome Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose. Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is currently unknown and there are no known treatments. The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or mental retardation, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others (likely due,"
"Rombo syndrome Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema, peripheral vasodilation with cyanosis and a propensity to develop basal cell carcinomas. The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face, At that time a pronounced, somewhat cyanotic redness of the lips and hands was evident as well as moderate follicular atrophy of the skin on the cheeks. In adulthood, whitish-yellow, milia-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks"
"treated with the drug anakinra. This syndrome is also known as the Prieur–Griscelli syndrome as it was first described by these authors in 1981. The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmature. The babies are frequently small for dates. The placenta may be abnormal with non-specific inflammation on histology. Umbilical cord anomalies have occasionally been reported. In severe cases, signs in the brain may be detected on prenatal ultrasound. The disease manifests in many forms, making the diagnosis difficult, but the most common features of this disease"
"HUPRA syndrome HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area. One of the two infants' parents were related. It was later described in a third infant from the same village, whose parents were not related. The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. And it's due to mutations in the mitochondrial SARS enzyme. It's an autosomal recessive disease, that has a prevalence of less than one in a million. One in fifteen of the village's inhabitants were"
"Aicardi syndrome Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome. Confirmation of this theory awaits the discovery of a causative gene. Symptoms typically appear before a baby reaches about 5 months of age. Children are most commonly identified with"