Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (228250) and triphalangeal thumb-polysyndactyly syndrome (see 174500 and 188740) (Matsuyama et al., 2003). ... McKay et al. (1984) reported affected sisters. McKay et al. (1984) reviewed syndromes of congenital defects in which tibial hemimelia is a feature. ... They suggested that there are 4 well-established and 2 other possible autosomal dominant tibial hemimelia syndromes in addition to 2 types with autosomal recessive inheritance. ... Stevens and Moore (1999) described a girl with Langer-Giedion syndrome (LGS; 150230), a contiguous gene syndrome caused by deletion in the 8q24.1 region. ... Limbs - Absent tibia Inheritance - Autosomal recessive - also other dominant and recessive tibial hemimelia syndromes ▲ Close
It can also be a part of a recognized syndrome such as Werner's syndrome , tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome .
The disorder is associated with several syndromes. Werner's syndrome, Gollop-Wolfgang, chromosome 8q deletion, Langer-Giedion syndrome or type II tricho-rhino-phalangeal syndrome (TRPS II) may also be responsible for the disorder.
Clinical Features Nievergelt syndrome is characterized by specific deformities of the radius, ulna, tibia, and fibula. ... Nievergelt (1944) reported an affected man who transmitted the syndrome to 3 sons, each by a different wife. ... Tuysuz et al. (2002) applied the diagnosis of Nievergelt syndrome to a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. In addition to the characteristic mesomelic limb anomalies of Nievergelt syndrome, this patient exhibited 2 additional features: agenesis of the cerebellar vermis and cataracts, both of which had not been previously associated with Nievergelt syndrome. ... History Urban and Kruger (1998) suggested that Nievergelt syndrome was the correct diagnosis in 24-year-old Alice Vance from Mount Pleasant, Texas, who was among the malformed individuals presented at the world exhibition in Antwerp in 1894.
When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind. ... External links [ edit ] Classification D ICD - 10 : Q76.7 ICD - 9-CM : 756.3 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum This human musculoskeletal system article is a stub .
Painful bruising syndrome Other names GDS [1] Painful bruising syndrome (also known as " autoerythrocyte sensitization ", " Gardner–Diamond syndrome ", and " psychogenic purpura ") is an idiopathic trauma-induced condition seen in young to middle-aged women who sometimes manifest personality disorders . [2] : 829 It is characterized by a distinctive localized purpuric reaction occurring primarily on the legs, face and trunk, with recurring painful ecchymoses variably accompanied by syncope , nausea , vomiting , gastrointestinal and intracranial bleeding. [3] Patients with this condition can suffer frequent painful bruising around joints and muscles. ... There have been cases of painful bruising syndrome reported where there are no additional psychological disorders. ... "Orphanet: Autoerythrocyte sensitization syndrome" . www.orpha.net . Retrieved 21 April 2019 . ^ James, William D.; Berger, Timothy G.; et al. (2006). ... ISBN 978-1-4160-2999-1 . ^ Ivanov, OL; Lvov, AN; Michenko, AV; Künzel, J; Mayser, P; Gieler, U (2009). "Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome): review of the literature**".
A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.
Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face.
Find sources: "Vanishing bile duct syndrome" – news · newspapers · books · scholar · JSTOR ( April 2010 ) ( Learn how and when to remove this template message ) Vanishing bile duct syndrome Other names Ductopenia Specialty Gastroenterology Vanishing bile duct syndrome is a loose collection of diseases which leads to the injury to hepatic bile ducts and eventual ductopenia . [1] Contents 1 Signs and symptoms 1.1 Signs and symptoms 2 Cause 2.1 Congenital 2.1.1 Atretic causes 2.1.2 Fibrocystic causes 2.1.3 Chromosomal associations 2.1.4 Genetic associations 2.2 Immunologic associations 2.3 Other causes 3 Diagnosis 4 Treatment 4.1 Medical therapies 5 References 6 External links Signs and symptoms [ edit ] The presentation is dependent upon the underlying cause. ... Atretic causes [ edit ] Intrahepatic bile duct atresia ( Alagille syndrome ) (ALGS2 MIM:610205 and ALGS1 MIM:118450) Extrahepatic bile duct atresia Fibrocystic causes [ edit ] Autosomal recessive polycystic kidney disease Congential hepatic fibrosis Caroli's disease Von Meyenburg complex Chromosomal associations [ edit ] Trisomy 17, 18 and 21 Genetic associations [ edit ] Cystic fibrosis Alpha 1 antitrypsin deficiency Trihydroxycoprostanic acidemia Byler's disease Immunologic associations [ edit ] Bile duct injury and loss can result from autoimmune destruction. ... Medical therapies [ edit ] Ursodeoxycholic acid Immunosuppression General consensus is that more studies are needed before this can be considered Organ transplant References [ edit ] ^ Reau NS, Jensen DM (February 2008). "Vanishing bile duct syndrome". Clin Liver Dis . 12 (1): 203–17, x. doi : 10.1016/j.cld.2007.11.007 . ... A. (2000). "Vanishing bile duct syndrome in Hodgkin's disease: Case report". ... External links [ edit ] Classification D Uptodate:Hepatic ductopenia and vanishing bile duct syndrome
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly.
A third case was described by Legius et al. (1988), who used the designation Holzgreve-Wagner-Rehder syndrome. Thomas et al. (1993) reported 2 sibs as the first familial occurrence of the syndrome: one, a female, had hypoplastic left heart sequence and renal hypoplasia; the other, a male, had a complex congenital heart defect, renal agenesis, and cleft lip and palate. ... They proposed that these patients, as well as the 2 sibs reported by Thomas et al. (1993), had a syndrome different from the one described by Holzgreve et al. (1984), mainly because of the absence of polydactyly. They referred to this as Thomas syndrome and suggested that it is inherited as an autosomal recessive with marked variability.
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
Pfeiffer et al. (1977) reported brother and sister with this combination. The brother also had congenital aortic stenosis. The ears were cup-shaped. The palpebral fissures were narrow, with epicanthal folds. INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Ears - Cup-shaped ears Eyes - Narrow palpebral fissures - Epicanthal folds Teeth - Enamel hypoplasia CARDIOVASCULAR Heart - Congenital aortic stenosis SKELETAL - Progressive joint stiffness VOICE - High-pitched voice ▲ Close
Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy).
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature.
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Although mental retardation and aggressive behavior had been noted, it was not certain whether these abnormalities were manifestations of the syndrome or segregated independently. Higgs and Clayton-Smith (2015) reported a 14-year-old boy in the sixth generation of the family originally reported by Rutherfurd (1931) who had noneruption of molar teeth, gingival hyperplasia, corneal dystrophy (bilateral corneal vascularization and opacity), and normal intellectual development. He had inherited Rutherfurd syndrome from his father and Marfan syndrome from his mother. ... They concluded that learning difficulties is not a feature of Rutherfurd syndrome. Inheritance The transmission pattern of corneal dystrophy, hypertrophy of gums, and failure of tooth eruption in the family originally reported by Rutherfurd (1931) was consistent with autosomal dominant inheritance (Houston and Shotts, 1966).
Tarsal tunnel syndrome Other names Posterior tibial neuralgia The mucous sheaths of the tendons around the ankle. ... Causes [ edit ] 3D still showing tarsal tunnel syndrome. It is difficult to determine the exact cause of Tarsal Tunnel Syndrome. ... The role of needle electromyography remains less defined. [8] Tarsal Tunnel Syndrome (TTS) is most closely related to Carpal Tunnel Syndrome (CTS). ... "Tarsal Tunnel Syndrome: Assessment of Treatment Outcome with an Anatomic Pain Intensity Scale." ... Perrin, and Tim Whiteley. "Tarsal Tunnel Syndrome: Case Study of a Male Collegiate Athlete."
Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. ... When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.
Neonatal withdrawal Other names Neonatal abstinence syndrome Prematurity can accompany withdrawal Specialty Pediatrics Neonatal withdrawal or neonatal abstinence syndrome ( NAS ) is a withdrawal syndrome of infants after birth caused by in utero exposure to drugs of dependence . [1] There are two types of NAS: prenatal and postnatal. ... PMID 17905183 . ^ "Neonatal abstinence syndrome: MedlinePlus Medical Encyclopedia" . medlineplus.gov . ... (December 2010). "Neonatal abstinence syndrome after methadone or buprenorphine exposure" . ... "Pharmacological Treatments for Neonatal Abstinence Syndrome: A Systematic Review and Network Meta-analysis" . ... PMID 22546608 . ^ Dow O (2012). "Neonatal Abstinence syndrome clinical practice guidelines for Ontatio" (PDF) .
Diagnosis No formal diagnostic criteria have been published for Perrault syndrome. Suggestive Findings Perrault syndrome should be suspected in individuals with the following clinical findings and family history. ... One woman with Perrault syndrome had children prior to the onset of ovarian insufficiency [Jenkinson et al 2013]. ... Prevalence Perrault syndrome is rare; approximately 100 affected individuals have been reported to date [Lerat et al 2016]. ... BPES can be distinguished from Perrault syndrome by the presence of marked blepharophimosis and ptosis in BPES. Ovarian antibodies are increased in polyglandular autoimmune syndrome type 1 (OMIM 240300 ) and type 2 (OMIM 269200).
A number sign (#) is used with this entry because of evidence that Perrault syndrome-6 (PRLTS6) is caused by homozygous mutation in the ERAL1 gene (607435) on chromosome 17q11. For a general phenotypic description and discussion of genetic heterogeneity of Perrault syndrome, see 233400. Clinical Features Chatzispyrou et al. (2017) studied 2 unrelated Dutch women from the same small village who exhibited deafness and ovarian dysgenesis, features of Perrault syndrome. ... Molecular Genetics In 2 unrelated Dutch women from the same small village with deafness and ovarian dysgenesis, Chatzispyrou et al. (2017) performed whole-exome sequencing that excluded mutations in known Perrault syndrome-associated genes and identified homozygosity for a missense mutation in the ERAL1 gene (N236I; 607435.0001) in both women. The mutation, which was not found in public variant databases, was present in heterozygosity in 49 of 530 unaffected villagers (allele frequency, 4.6%), suggesting a relatively high prevalence (0.2%) of Perrault syndrome in the village. A third woman from the village with progressive sensorineural hearing loss and primary amenorrhea presented during the course of the study and was also homozygous for N236I.
Perrault syndrome is an inherited condition characterized by sensorineural hearing loss in males and females, and abnormalities of the ovaries in females. ... It is likely that other genes are also involved. Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.
Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. ... Epidemiology Prevalence is unknown but 34 patients with PS (28 females and 6 males) from 15 different families have been reported so far. However, the syndrome is probably underdiagnosed: hypogonadism is not a feature in males and in the absence of an affected sister the syndrome remains undetected. ... Cerebral MRI may show a nonspecific white matter hypersignal or cerebellar atrophy. Differential diagnosis Turner syndrome is the principle differential diagnosis (see this term).
A number sign (#) is used with this entry because of evidence that Perrault syndrome-2 (PRLTS2) is caused by compound heterozygous mutation in the HARS2 gene (600783) on chromosome 5q31. One such family has been reported. Description Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. ... For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400). Clinical Features Pallister and Opitz (1979) reported 3 sisters with ovarian dysgenesis and moderate to severe sensorineural deafness. ... Inheritance The transmission pattern of Perrault syndrome-2 in the family reported by Pallister and Opitz (1979) was consistent with autosomal recessive inheritance. Mapping By genomewide linkage analysis of a family with Perrault syndrome originally reported by Pallister and Opitz (1979), Pierce et al. (2011) found linkage to a 4.142-Mb region on chromosome 5q31 between D5S479 and D5S2508 (Z lod score of 3.10).
A number sign (#) is used with this entry because of evidence that Perrault syndrome-4 (PRLTS4) is caused by homozygous or compound heterozygous mutation in the LARS2 gene (604544) on chromosome 3p21. Description Perrault syndrome is characterized by premature ovarian failure (POF) in females and by progressive hearing loss in both females and males (summary by Pierce et al., 2013). ... Solda et al. (2016) reported a sister and brother, born of unrelated Italian parents, with Perrault syndrome. Both had profound congenital sensorineural hearing loss and received cochlear implants. ... Inheritance The transmission pattern of Perrault syndrome in 2 families reported by Pierce et al. (2013) was consistent with autosomal recessive inheritance. Molecular Genetics In a consanguineous family of Palestinian ancestry with Perrault syndrome, Pierce et al. (2013) performed exome sequencing followed by filtering and identified only 1 homozygous variant, a missense mutation in the LARS2 gene (T522N; 604544.0001), that segregated with disease.
A number sign (#) is used with this entry because of evidence that Perrault syndrome-5 (PRLTS5) is caused by compound heterozygous mutation in the C10ORF2 gene (TWNK; 606075) on chromosome 10q24. Biallelic mutations in the C10ORF2 gene can also cause mitochondrial DNA depletion syndrome-7 (MTDPS7; 271245), which shares some features with PRLTS5 but is more severe. ... Inheritance The transmission pattern of Perrault syndrome in the families reported by Morino et al. (2014) was consistent with autosomal recessive inheritance. Molecular Genetics In 4 women from 2 unrelated families with Perrault syndrome-5, Morino et al. (2014) identified compound heterozygous mutations in the C10ORF2 gene (606075.0016-606075.0019). ... Morino et al. (2014) noted that the report expanded the phenotypic spectrum associated with recessive C10ORF2 mutations to include less severe neurologic involvement compared to mitochondrial DNA depletion syndrome-7 (MTDPS7; 271245) and a clinical presentation consistent with Perrault syndrome.
A number sign (#) is used with this entry because Perrault syndrome-3 (PRLTS3) is caused by homozygous or compound heterozygous mutation in the CLPP gene (601119) on chromosome 19p13. Description Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. ... For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400). Clinical Features Ain et al. (2007) reported a consanguineous Pakistani family (PKDF291) in which 4 sisters had profound prelingual hearing loss. ... Dursun et al. (2016) performed genomewide homozygosity mapping in a Turkish family with Perrault syndrome and identified a 2-Mb region on chromosome 19p13 (chr19:5,469,832-7,472,041) that was homozygous in the 2 affected individuals and heterozygous in their parents. ... Sanger sequencing of the CLPP gene in 20 additional families with Perrault syndrome did not reveal any mutations. Jenkinson et al. (2013) noted that severe to profound hearing loss was present in all affected individuals from the 3 families with mutations in CLPP, in contrast to the more variable hearing loss described in families with Perrault syndrome due to mutation in the HSD17B4 gene (601860; see PRLTS1, 233400) or the HARS2 gene (600783; see PRLTS2, 614926).
Description Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. ... Clinical Features Perrault et al. (1951) described 2 sisters with a syndrome comprising sensorineural deafness and ovarian dysgenesis. ... McCarthy and Opitz (1985) described 2 sisters from Montana with Perrault syndrome. The girls were ages 15 and 4 years, respectively. ... The authors reviewed the 28 reported cases of Perrault syndrome; neurologic data were available for 14 of 21 females, 7 of whom had neurologic abnormalities. ... Pierce et al. (2010) concluded that Perrault syndrome and DBP deficiency overlap clinically, and that DBP deficiency may be underdiagnosed.
A number sign (#) is used with this entry because CK syndrome is caused by hemizygous mutation in the NSDHL gene (300275) on chromosome Xq28. Description CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010). CHILD syndrome (308050) is an allelic disorder with a different phenotype. ... Inheritance McLarren et al. (2010) showed that inheritance in the family with CK syndrome reported by du Souich et al. (2009) and the family reported by Tarpey et al. (2009) was consistent with an X-linked recessive pattern. ... In affected members of the original family with CK syndrome reported by du Souich et al. (2009), McLarren et al. (2010) identified a hemizygous truncating mutation in the NSDHL gene (300275.0008).
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus.
Find sources: "Pervasive refusal syndrome" – news · newspapers · books · scholar · JSTOR ( October 2018 ) The neutrality of this article is disputed . ... The average age of onset is purported to be 7-15. [3] See also [ edit ] Resignation syndrome Asylum seekers with apathetic refugee children References [ edit ] ^ Nunn, Kenneth P.; Lask, Bryan; Owen, Isabel (2014). "Pervasive refusal syndrome (PRS) 21 years on: a re-conceptualisation and a renaming". ... S2CID 22848353 . ^ Lask, Bryan (2004). "Pervasive refusal syndrome" . Advances in Psychiatric Treatment . 10 (2): 153–159. doi : 10.1192/apt.10.2.153 . ... J.; Schieveld, Jan N. M. (2009). "Pervasive refusal syndrome as part of the refusal–withdrawal–regression spectrum: critical review of the literature illustrated by a case report" .
Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. ... Most people survive 7 to 15 years after the symptoms appear. Frequency AMRF syndrome is a rare condition that has been found worldwide. ... At least 38 individuals with the condition have been described in the medical literature. Causes AMRF syndrome is caused by mutations in the SCARB2 gene. ... SCARB2 gene mutations associated with AMRF syndrome lead to production of an altered LIMP-2 protein that cannot get to the lysosome. ... It is thought that a shortage of beta-glucocerebrosidase function in these structures contributes to the signs and symptoms of AMRF syndrome, although the mechanism is unclear.
A number sign (#) is used with this entry because progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF), is caused by homozygous or compound heterozygous mutations in the SCARB2 gene (602257) on chromosome 4q21. Description The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. ... By age 20, she was totally dependent, unable to write, eat alone, or walk independently, and manifested dysarthria and dysphagia. She developed nephrotic syndrome with thrombocytopenia; renal biopsy showed tubular alterations with vacuolization in distal and collecting tubules and granular material in cortical tubules. ... Horizontal saccades developed at age 20, and by age 21 she presented nephrotic syndrome and was totally dependent 1 year later. ... In a Portuguese girl with progressive myoclonic epilepsy and nephrotic syndrome, Balreira et al. (2008) identified a homozygous mutation in the SCARB2 gene (W178X; 602257.0004).
Specialty Neurology Dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. [1] It is also known as Haw River Syndrome and Naito–Oyanagi disease . Although this condition was perhaps first described by Smith et al. in 1958, and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan. ... "Dentatorubral–pallidoluysian atrophy and Haw River Syndrome". Lancet . 344 (8938): 1711–2. doi : 10.1016/S0140-6736(94)90497-9 . ... External links [ edit ] Classification D OMIM : 125370 MeSH : D020191 DiseasesDB : 32909 External resources GeneReviews : DRPLA v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK) v t e Non-Mendelian inheritance : anticipation Trinucleotide Polyglutamine (PolyQ), CAG Dentatorubral-pallidoluysian atrophy Huntington's disease Kennedy disease Spinocerebellar ataxia 1, 2, 3, 6, 7, 17 ( Machado-Joseph disease ) Non-polyglutamine CGG ( Fragile X syndrome ) GAA ( Friedreich's ataxia ) CTG ( Myotonic dystrophy type 1 ) CTG ( Spinocerebellar ataxia 8 ) CAG ( Spinocerebellar ataxia 12 ) Tetranucleotide CCTG ( Myotonic dystrophy type 2 ) Pentanucleotide ATTCT ( Spinocerebellar ataxia 10 )
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly.
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, see RLS1 (102300). Clinical Features Bonati et al. (2003) reported an Italian family in which at least 15 members spanning 3 generations had restless legs syndrome inherited in an autosomal dominant pattern. ... Mapping In a large Italian family with autosomal dominant restless legs syndrome, Bonati et al. (2003) found linkage to a 9.1-cM region between markers D14S70 and D14S1068 on chromosome 14q13-q21 (maximum 2-point lod score of 3.23 at D14S288).
Clinical Features Mievis et al. (1996) described a possibly distinct syndrome in 2 brothers born of nonconsanguineous healthy parents. ... Mievis et al. (1996) suggested that this complex is different from low birth weight syndromes, e.g., Russell-Silver syndrome (268650) and 3M syndrome (273750), and from other metaphyseal chondrodysplasias.
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.