As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). ... HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes. Frequency Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common.
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.
A number sign (#) is used with this entry because of evidence that this phenocopy of Huntington disease (HDL1) is a familial prion disease caused by 8 extra octapeptide repeats in the PRNP gene (176640.0001) on chromosome 20p13. Clinical Features Andrew et al. (1994) found that 30 of 1,022 persons (2.9%) diagnosed as having Huntington disease (HD; 143100) did not have an expanded CAG repeat in the disease range in the huntingtin gene (HTT; 613004). After excluding errors in misdiagnosis, sample mix-up, or clerical error, 12 patients (1.2% of the total sample) represented possible phenocopies for HD. In at least 4 cases, family studies of these phenocopies excluded 4p16.3 as the region responsible for the phenotype. Andrew et al. (1994) concluded that on rare occasions mutations in other genes can present a clinical phenotype very similar to that of HD.
Red ear syndrome A red ear syndrome attack, with affected ear on the left Red ear syndrome ( RES ) is a rare disorder of unknown etiology which was originally described in 1994. ... S. (2013). "The red ear syndrome" . The Journal of Headache and Pain . 14 (1): 83. doi : 10.1186/1129-2377-14-83 . PMC 3850925 . ^ Purdy RA, Dodick DW (August 2007). "Red ear syndrome". Curr Pain Headache Rep . 11 (4): 313–6. doi : 10.1007/s11916-007-0210-8 . PMID 17686397 . ^ Brill TJ, Funk B, Thaçi D, Kaufmann R (December 2009). "Red ear syndrome and auricular erythromelalgia: the same condition?". ... R. & Davies, P. (2012). "Red ear syndrome: A review of all published cases (1996–2010)".
Snijders Blok-Campeau syndrome is characterized by intellectual disability, speech problems, and distinctive facial features. ... While some people with Snijders Blok-Campeau syndrome develop limited language, others acquire only a few words or never speak. ... Individuals with Snijders Blok-Campeau syndrome have distinctive facial features. ... Frequency The prevalence of Snijders Blok-Campeau syndrome is unknown. It is thought to be a rare condition. Approximately 60 cases have been described in the scientific literature. Causes Snijders Blok-Campeau syndrome is caused by mutations in the CHD3 gene.
A number sign (#) is used with this entry because of evidence that Snijders Blok-Campeau syndrome (SNIBCPS) is caused by heterozygous mutation in the CHD3 gene (602120) on chromosome 17p13. Description Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition.
Aortocaval compression syndrome Specialty OB/GYN Aortocaval compression syndrome is compression of the abdominal aorta and inferior vena cava by the gravid uterus when a pregnant woman lies on her back, i.e. in the supine position . It is a frequent cause of low maternal blood pressure ( hypotension ), which can result in loss of consciousness [1] and in extreme circumstances fetal demise. [2] [3] Aortocaval compression is thought to be the cause of supine hypotensive syndrome . Supine hypotensive syndrome is characterized by pallor , tachycardia , sweating , nausea , hypotension and dizziness and occurs when a pregnant woman lies on her back and resolves when she is turned on her side. [4] Medical management of supine hypotensive syndrome can include turning the patient to the left recumbent position (so the uterus is not sitting on the IVC ) and administering IV fluids . [3] The aorta and inferior vena cava are central vessels, the largest artery and vein. ... See also [ edit ] Inferior vena cava syndrome References [ edit ] ^ Kiefer R, Ploppa A, Dieterich H (2003). "[Aortocaval compression syndrome]". Anaesthesist . 52 (11): 1073–83, quiz 1084. doi : 10.1007/s00101-003-0596-6 . PMID 14992095 . ^ Banaś T, Godula Z, Herman R (2004). "[Aortocaval compression syndrome as an explanation of sudden intrauterine death of mature twins at term.
Spastic ataxia-corneal dystrophy syndrome Other names Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome and Spastic ataxia-ocular anomalies syndrome Spastic ataxia-corneal dystrophy syndrome is inherited in an autosomal recessive manner Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome ) is an autosomally resessive disease. ... A member of the family who was first diagnosed with this disease also had Bartter syndrome . It was concluded by its first descriptors Mousa-Al et al. that the disease is different from a disease known as corneal-cerebellar syndrome that had been found in 1985. [2] Symptoms include spastic ataxia , cataracts , macular corneal dystrophy and nonaxial myopia . Mental development is normal. [2] Contents 1 See also 2 References 3 Further reading 4 External links See also [ edit ] Rare disease References [ edit ] ^ "Orphanet: Spastic ataxia-corneal dystrophy syndrome" . Orphanet . October 2006 . Retrieved 18 May 2016 . ^ a b "OMIM Entry - 271320 - SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA" . ... Report of a Bedouin family—a new syndrome". J. Neurol. Sci . 76 (1): 105–21. doi : 10.1016/0022-510x(86)90145-0 .
Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia.
Clinical Features Mousa et al. (1986) described a syndrome of spastic ataxia in association with congenital cataracts, macular corneal dystrophy, and nonaxial myopia in an inbred Bedouin family. ... Indeed, the proband in this family (referred to by Mousa et al. (1986) as the 'marker case') had Bartter syndrome (see 241200), which brought the patient to clinical attention.
However, there remain many people who had polio at a young age who now later in life might develop the post-polio syndrome. Symptoms Post-polio syndrome only affects people who had polio. ... It's important to rule out other causes of your signs and symptoms and determine whether you have post-polio syndrome. Causes There are several theories as to what causes post-polio syndrome, but no one knows for sure. ... Sleep disorders. Sleep apnea and restless legs syndrome are common in people with post-polio syndrome. ... Indicators of post-polio syndrome For a diagnosis of post-polio syndrome, doctors look for three indicators: Previous diagnosis of polio. ... Blood tests. People with post-polio syndrome usually have normal blood test results.
Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes.
Human disease Post-polio syndrome Other names Post-poliomyelitis syndrome or Post-polio sequelae Science fiction writer Arthur C. ... Retrieved 19 March 2008 . ^ a b "Post-polio syndrome: Symptoms" . MayoClinic.com . Retrieved 23 February 2009 . ^ a b c "Post-Polio Syndrome Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)" . ... "Prevalence of post-polio syndrome based on a cross-sectional survey in Kitakyushu, Japan" . ... Warm Springs, GA: March of Dimes International Conference on Post-Polio Syndrome Nollet F. "Perceived health and physical functioning in postpoliomyelitis syndrome". ... Post-Polio Syndrome: A Guide for Polio Survivors and Their Families.
A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. Epidemiology The prevalence is estimated at around 1/200,000. Clinical description Attacks of muscle weakness generally begin during childhood (first decade). They vary in frequency, duration (a few minutes to hours) and severity (focal paresis to total paralysis). They generally involve the limb muscles and spare the facial and respiratory musculature. Episodes are triggered by rest after exercise, fasting and cold exposure.
Adult onset of clinical manifestations points to other diagnoses such as the Andersen-Tawil syndrome or secondary acquired forms of hyperPP. Andersen-Tawil syndrome (potassium-sensitive cardiodysrhythmic type of periodic paralysis). Andersen-Tawil syndrome is characterized by the triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and common anomalies such as low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. ... Molecular genetic testing, electrocardiogram, and Holter recording obtained between attacks of weakness are very important for distinguishing between hyperPP and Andersen-Tawil syndrome. In the experience of the author, the cardiologic manifestations precede the neuromuscular ones. ... Pseudohypoaldosteronism type II (PHAII), also known as Gordon's syndrome or familial hyperkalemia and hypertension, is characterized by hypertension, increased renal salt reabsorption, and impaired potassium and hydrogen excretion resulting in hyperkalemia that may be improved by thiazide diuretics.
Hyperkalemic periodic paralysis is a genetic disease that causes episodes of extreme muscle weakness and an increase of the potassium levels in the blood. Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes usually begin before age 20, usually between infancy and age 10. Normally an episode lasts for 15 minutes to an hour, but in some people the episodes may last a few days to a week.
Differential diagnosis Differential diagnoses should include hyper/normokalemic periodic paralysis, Andersen-Tawil syndrome and secondary hypoPP caused by renal or endocrine diseases such as thyrotoxicosis (thyrotoxic periodic paralysis).
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently in many people with the condition. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to hot or cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.
Nomenclature Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. Animal Model In Quarter horses, Rudolph et al. (1992) found tight linkage of hyperkalemic periodic paralysis to the SCN4A gene, indicating that it is an authentic model of the human disease.
A number sign (#) is used with this entry because of evidence that the 5q- syndrome is caused by the somatic deletion of 1 allele of the RPS14 gene (130620). Description The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. ... Clinical Management Nimer (2006) reviewed the clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. ... The author noted that only a subset of patients with del(5q) MDS fulfill the WHO diagnostic criteria for the 5q- syndrome: de novo myelodysplastic syndrome with an isolated 5q interstitial deletion involving 5q31-q33, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. ... In addition, the authors identified a block in the processing of preribosomal RNA in RPS14-deficient cells that is functionally equivalent to the defect in Diamond-Blackfan anemia (105650), linking the molecular pathophysiology of the 5q- syndrome to a congenital syndrome causing bone marrow failure.
"Jellyfish Responsible for Irukandji Syndrome" . Q J Med . 99 (6): 425–27. doi : 10.1093/qjmed/hcl057 . ... CS1 maint: multiple names: authors list ( link ) ^ "Irukandji syndrome" . lifeinthefastlane.com . 18 December 2008. ... "Fatal envenomation by jellyfish causing Irukandji syndrome". Med J Aust . 177 (7): 362–63. doi : 10.5694/j.1326-5377.2002.tb04838.x . ... "Mechanism of cardiac failure in Irukandji syndrome and first aid treatment for stings". ... "Failure of magnesium in treatment of Irukandji syndrome". Anaesth Intensive Care . 33 (4): 541–2.
The mildest presentation of PMD (mild developmental and motor delay beginning at 2-3 years old, later associated with spastic paraplegia, ataxia, and/or mild intellectual deficit) is not clearly distinguishable from PLP1 null syndrome (see this term), which consists on mild PMD features associated with peripheral neuropathy, and complicated spastic paraplegia 2 (SPG2; see this term), a disorder primarily characterized by spastic gait in its pure form. ... PLP1 duplications lead to the classic form, missense substitutions from connatal to pure SPG2 forms, and PLP1 null mutations to the null syndrome. Patients without PLP1 mutations but with similar clinical and nearly identical neuroradiologic features as PMD are referred to as having PMD-like disease (PMLD; see this term). ... Magnetic resonance imaging (MRI) reveals complete (connatal, some transitional forms), partial (mild PMD) or diffuse (null syndrome) hypomyelination. Brainstem auditory evoked potentials (BAEP) may be helpful to differentiate PMD (lack of waves II-V) from PMLD (recordable II-V waves).
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin . Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, Pelizaeus-Merzbacher disease involves hypomyelination, which means that the nervous system has a reduced ability to form myelin.
Fahmy et al. (1969) observed a brother and sister (out of a sibship of 11), offspring of first-cousin parents, with a slowly progressive neurologic disorder that began in early childhood. Electron microscopic studies of sural nerve showed unique rod-shaped bodies in Schwann cells. The clinical picture was similar to that of Pelizaeus-Merzbacher disease (312080). Neuro - Cerebral sclerosis Lab - Rod-shaped bodies in sural nerve Schwann cells on electron microscopy Inheritance - Autosomal recessive ▲ Close
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. ... Although they usually are ambulatory during childhood and have good speech, patients with the null syndrome tend to decline more rapidly beginning in adolescence or early adulthood compared to patients with other PMD forms. Etiology The syndrome is due to null mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system.
However, Becker (1961) expressed the opinion that Wolfslast's family suffered from the Pelizaeus-Merzbacher syndrome, and Verschuer (1958) stated the same opinion.
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term). Epidemiology PMD has an estimated prevalence of 1/400,000. The connatal form accounts for approximately 10 to 15 % of all cases of PMD. It predominantly affects males. Clinical description Connatal PMD presents, from birth, with hypotonia, nystagmus, respiratory distress, stridor, feeding difficulties and sometimes seizures. Subsequently, there is profound motor and cognitive delay and spastic quadriparesis. Patients never learn to walk, have limited language skills and usually die from respiratory complications by the second decade.
Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males.
Please improve this by adding secondary or tertiary sources . ( November 2014 ) ( Learn how and when to remove this template message ) Brown–Vialetto–Van Laere syndrome Other names BVVLS1 [1] Brown-Vialetto-Van-Laere syndrome ( BVVL ), sometimes known as Brown's Syndrome , is a rare degenerative disorder often initially characterized by progressive sensorineural deafness . [2] The syndrome most often affects children, adolescents, and young adults. ... Nathalie syndrome does not involve lower cranial nerve symptoms, so it can be excluded if those are present. ... S2CID 7690110 . ^ a b c Prabhu, HV; Brown, MJ (June 2005). "Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology". The Journal of Laryngology & Otology . 119 (6): 470–2. doi : 10.1258/0022215054273179 . ... "[A case of Brown-Vialetto-van Laere (BVVL) syndrome in Japan]". Rinsho Shinkeigaku . 45 (5): 357–61. ... A case of Klippel-Trenaunay syndrome in siblings of the same family.
A number sign (#) is used with this entry because Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is caused by homozygous or compound heterozygous mutation in the SLC52A2 gene (607882) on chromosome 8q24. Description Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. ... For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530). Clinical Features Megarbane et al. (2000) reported a large inbred Lebanese family with 4 patients, including 3 males and 1 female, with severe features of Brown-Vialetto-Van Laere syndrome. ... Molecular Genetics In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2, Johnson et al. (2012) identified a homozygous mutation in the SLC52A2 gene (G306R; 607882.0001).
A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished. Epidemiology Riboflavin transporter deficiency (RTD) has been reported in more than 100 genetically diagnosed cases to date. Clinical description Onset may occur from early infancy until adulthood, with a more severe presentation at a younger age. The most frequent presenting symptoms are cranial neuropathy, sensory ataxia, muscle weakness and respiratory insufficiency due to diaphragmatic paralysis.
Riboflavin transporter deficiency neuronopathy encompasses two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease.
A number sign (#) is used with this entry because Brown-Vialetto-Van Laere syndrome-1 (BVVLS1), a form of progressive bulbar palsy with sensorineural deafness, is caused by homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3; 613350) on chromosome 20p13. ... Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q. ... Dipti et al. (2005) noted the overlap between BVVLS and Fazio-Londe syndrome, and suggested that both younger children may have developed deafness later. ... The proband, a teenaged girl, had the full syndrome; her father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness, and a paternal aunt had clinical symptoms indicative of the syndrome. ... In 3 affected members of a consanguineous Turkish family with Brown-Vialetto-Van Laere syndrome, Johnson et al. (2010) identified a homozygous mutation in the C20ORF54 gene (P28T; 613350.0007).
Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves , sensorineural deafness , and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time. When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it begins in childhood or early adulthood, sensorineural deafness is usually the first symptom. Other signs and symptoms may include vocal cord paralysis, droopy eyelids, facial weakness, slurred speech, difficulty swallowing, visual problems, autonomic dysfunction , breathing difficulties, and weakness of the neck, shoulder, and limbs.
Clinical Features Scott et al. (1971) described a craniodigital syndrome with mental retardation in 3 brothers. ... The nose had a broad base resembling that in Waardenburg syndrome. Lorenz et al. (1990) reported what they designated the craniofacial digital syndrome of Scott in a boy whose mother had bilateral cutaneous syndactyly of toes 2 and 3. ... One patient also had polydactyly, which had not previously been reported in Filippi syndrome. Franceschini et al. (2002) reported a patient with the characteristic features of Filippi syndrome. ... Franceschini et al. (2002) also compared the clinical findings in all 17 cases of Filippi syndrome with those in other 'craniodigital syndromes.' ... The authors proposed that neurologic and ectodermal involvement may be underrecognized features of the syndrome. Milani et al. (2007) reported a girl, born of unrelated Italian patients, with a phenotype most reminiscent of Scott syndrome.
Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline).
Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. ... Other features may can include vision problems, extra fingers and toes, and seizures. Because Filippi syndrome is very rare, it is not known how this condition changes over time. Filippi syndrome is caused by a genetic variant in the CKAP2L gene and is inherited in an autosomal recessive pattern.
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear. People with mannose-binding lectin deficiency can develop infections of the upper respiratory tract and other body systems. Individuals with this condition may also contract more serious infections such as pneumonia and meningitis.
A number sign (#) is used with this entry because mannose-binding lectin deficiency (MBLD) is caused by heterozygous polymorphic variation in the gene encoding MBL (MBL2; 154545) on chromosome 10q21. Individuals who are homozygous or compound heterozygous for polymorphisms that lead to MBL deficiency may have lower serum MBL levels and more severe phenotypic manifestations. Description Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008).
McKittrick-Wheelock syndrome Specialty Gastroenterology McKittrick-Wheelock syndrome is an uncommon syndrome caused by large, villous adenomas that secrete high quantities of electrolyte-rich mucin . ... You can help by adding to it . ( March 2018 ) Treatment [ edit ] The treatment is supportive until the villous adenoma can be resected surgically. [ citation needed ] History [ edit ] The syndrome was first described by Leland S. ... In 1954 they reported a case of an 84-year-old woman with a large villous papilloma of the rectum, who presented with weakness, syncope and oliguria. [3] See also [ edit ] Colorectal cancer Sessile serrated adenoma Tubulovillous adenoma References [ edit ] ^ Popescu, A; Orban-Schiopu, A; Becheanu, G; et al. (2005). "McKittrick-Wheelock syndrome: a rare cause of acute renal failure". ... PMID 15800695 . ^ Raphael, M; McDonald, C; Detsky, A (2015). "McKittrick-Wheelock syndrome" . CMAJ . 187 (9): 676–678. doi : 10.1503/cmaj.141195 .
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. ... The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. Frequency Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. Causes Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. ... The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome. Learn more about the gene associated with Chanarin-Dorfman syndrome ABHD5 Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
P. (2011). "Creatine deficiency syndromes and the importance of creatine synthesis in the brain" (PDF) . ... PMID 21390529 . ^ a b c Schulze, Andreas (2009). "Creatine Deficiency Syndromes". In Sarafoglou, Kiriakie; Hoffmann, Georg F.; Roth, Karl S.
Clinical description In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract, retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases.
Neutral lipid storage disease Other names Chanarin–Dorfman syndrome Presence of lipid vacuoles in granulocytes in Chanarin-Dorfman syndrome (also known as Jordans' anomaly ) Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome ) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes[1], (Jordan’s Anomaly) muscle, liver, fibroblasts , and other tissues. ... Subtype II: Neutral Lipid Storage Disease with Ichthyosis (NLSD-I), or Chanarin-Dorfman syndrome, is caused by a mutation in the CGI-58 protein. ... PMID 11590543 . ^ Yamaguchi, Tomohiro; Osumi, Takashi (2009). "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... Mar 3, 2020. ^ Yamaguchi, Tomohiro; Osumi, Takashi (2009). "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... PMID 28258942 . ^ Yamaguchi, Tomohiro; Osumi, Takashi (2009). "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase".
A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.
A number sign (#) is used with this entry because Chanarin-Dorfman syndrome, a rare form of nonbullous congenital ichthyosiform erythroderma (NCIE; see 242300), can be caused by homozygous mutation in the CGI58 gene (ABHD5; 604780). ... Clinical Features In a 5-year-old girl, Angelini et al. (1980) identified a syndrome, presumably inherited as an autosomal recessive, characterized by congenital ichthyosis, hepatosplenomegaly, vacuolated granulocytes (Jordans anomaly), and myopathy. ... On suspicion of Sjogren-Larsson syndrome (SLS; 270200), single-voxel 1H-MR spectroscopy of the brain was performed; biochemical testing of fatty aldehyde dehydrogenase (see 609523) to establish this diagnosis yielded normal results. Vacuolization in peripheral blood smears had led to suspicion of Chanarin-Dorfman syndrome. In both patients, that diagnosis was confirmed by ABHD5 mutation analysis. ... Molecular Genetics In 9 families from the Mediterranean basin with Chanarin-Dorfman syndrome, Lefevre et al. (2001) identified 8 different haplotypes and homozygous mutations in the ABHD5 gene (604780.0001-604780.0008).
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. ... Weakness or paralysis of the eye muscles have also been reported.[ Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing.
Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome (184900). Skel - Limitation of joint mobility - Contractures of lower limbs Pulmonary - Restrictive ventilatory insufficiency Inheritance - Autosomal recessive Thorax - Thickened thoracic fascia Skin - Stony-hard induration of skin and deeper tissue ▲ Close
A number sign (#) is used with this entry because of evidence that stiff skin syndrome (SSKS) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21. Description Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. ... Syndesmodysplasic dwarfism (272450) and the Parana hard-skin syndrome (260530) bear similarities to this syndrome but are apparently distinct recessive entities. ... None of the patients had skeletal, ocular, or cardiovascular findings of Marfan syndrome (MFS; 154700). However, Loeys et al. (2010) also examined a 14-year-old boy with a 'hybrid' phenotype, who had ocular lens dislocation, which is a cardinal manifestation of Marfan syndrome, glaucoma, retinal detachment, and tight skin with diffuse joint contracture. ... Another patient who had a 'hybrid' phenotype of stiff skin syndrome with ectopia lentis was found to be heterozygous for a missense mutation in exon 38 of FBN1 (134797.0054).
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures.
Unsourced material may be challenged and removed. Find sources: "Stiff skin syndrome" – news · newspapers · books · scholar · JSTOR ( February 2016 ) ( Learn how and when to remove this template message ) Stiff skin syndrome Specialty Medical genetics Stiff skin syndrome (also known as "Congenital fascial dystrophy" [1] ) is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues , limited joint mobility, and mild hypertrichosis in infancy or early childhood . ... Diagnosis [ edit ] Differential diagnosis [ edit ] Other conditions associated with muations in this gene include acromicric dysplasia , Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome , autosomal dominant Weill-Marchesani syndrome , isolated ectopia lentis , MASS phenotype , and Shprintzen-Goldberg syndrome . [3] [4] See also [ edit ] Scleroderma Self-healing papular mucinosis List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Description Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. ... For additional information and a discussion of genetic heterogeneity of restless legs syndrome (RLS), see RLS1 (102300). Clinical Features Levchenko et al. (2006) reported a French Canadian pedigree in which 17 individuals had restless legs syndrome inherited in an autosomal dominant pattern. Mapping By genomewide linkage analysis in a French Canadian pedigree segregating restless legs syndrome, Levchenko et al. (2006) identified a 5.2-Mb candidate region, referred to as RLS5, on chromosome 20p13 (maximum multipoint lod score of 3.86 at D20S849).