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Jalili Syndrome
Wikipedia
Jalili syndrome Other names Cone rod dystrophy-amelogenesis imperfecta syndrome Jalili syndrome is inherited via an autosomal recessive manner Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta . [1] It was characterized in 1988 by Dr. ... "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome" . Journal of Medical Genetics . 25 (11): 738–40. doi : 10.1136/jmg.25.11.738 . ... "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta" . ... "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta" . ... Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs . Eye (2010) 24, 1659–1668; doi:10.1038/eye.2010.103.
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Say–meyer Syndrome
Wikipedia
X-linked recessive disorder characterised by developmental delay Say–Meyer syndrome Other names Trigonocephaly-short stature-developmental delay syndrome Say–Meyer syndrome is inherited in an X-linked recessive manner. Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay . ... Horm Res . 49 Suppl 2: 1–6. doi : 10.1159/000053079 . PMID 9730664 . ^ "Say Meyer Syndrome natural cures" . Retrieved 24 October 2013 . ^ Stevenson, Roger (2012-07-12). Atlas of X-Linked Intellectual Disability Syndromes . ISBN 9780199811793 . ^ Reddy, P Amaresh; Chakradhar, B. ... "A rare case of short stature: Say Meyer syndrome" . Indian Journal of Endocrinology and Metabolism . 17 (7): 130–131. doi : 10.4103/2230-8210.119531 .
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Wikipedia
Mitochondrial neurogastrointestinal encephalopathy syndrome Other names MNGIE syndrome Structure of thymidine phosphorylase enzyme, the main gene product of the TYMP gene. ... PMID 21933806 . ^ a b "OMIM Entry - # 603041 - MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1" . omim.org . ... "Mitochondrial neuro-gastrointestinal encephalopathy syndrome" (PDF) . Indian Journal of Pediatrics . 73 (12): 1112–1114. doi : 10.1007/BF02763058 . ... "Myo-, Neuro-, Gastrointestinal Encephalopathy (MNGIE Syndrome) due to partial deficiency of cytochrome-C oxidase: A new mitochondrial multisystem disorder". ... External links [ edit ] Classification D ICD - 9-CM : 277.87 OMIM : 603041 MeSH : C536350 DiseasesDB : 32948 External resources GeneReviews : Mitochondrial Neurogastrointestinal Encephalopathy Disease Orphanet : 298 v t e Mitochondrial diseases Carbohydrate metabolism PCD PDHA Primarily nervous system Leigh disease LHON NARP Myopathies KSS Mitochondrial encephalomyopathy MELAS MERRF PEO No primary system DAD MNGIE Pearson syndrome Chromosomal OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome see also mitochondrial proteins v t e Inborn error of purine–pyrimidine metabolism Purine metabolism Anabolism Adenylosuccinate lyase deficiency Adenosine Monophosphate Deaminase Deficiency type 1 Nucleotide salvage Lesch–Nyhan syndrome / Hyperuricemia Adenine phosphoribosyltransferase deficiency Catabolism Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Xanthinuria Gout Mitochondrial neurogastrointestinal encephalopathy syndrome Pyrimidine metabolism Anabolism Orotic aciduria Miller syndrome Catabolism Dihydropyrimidine dehydrogenase deficiency
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Carcinoid Syndrome
Mayo_clinic
Treatment for carcinoid syndrome usually involves treating the cancer. ... Medications may be recommended to relieve your carcinoid syndrome symptoms and make you more comfortable. ... Most people who experience carcinoid syndrome have an advanced cancer that has spread to the liver. ... Some people with carcinoid syndrome develop carcinoid heart disease. ... Talk to other people with carcinoid syndrome. Support groups for people with carcinoid syndrome put you in touch with those who have faced the same challenges you are facing.
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46,xx/46,xy
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q99.0 External resources Orphanet : 199310 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Sinus Node Dysfunction
Wikipedia
Complications Tachycardia-bradycardia syndrome Sinus node dysfunction (SND) , also known as sick sinus syndrome (SSS), is a group of abnormal heart rhythms ( arrhythmias ) usually caused by a malfunction of the sinus node , the heart's primary pacemaker. [1] [2] Tachycardia-bradycardia syndrome is a variant of sick sinus syndrome in which the arrhythmia alternates between fast and slow heart rates. [3] Contents 1 Signs and symptoms 1.1 Complications 2 Causes 2.1 Intrinsic Causes 2.2 Extrinsic Causes 3 Diagnosis 3.1 Electrocardiogram 3.2 Clinical Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Often sinus node dysfunction produces no symptoms, especially early in the disease course. ... "New Insights Into Pacemaker Activity: Promoting Understanding of Sick Sinus Syndrome" . Circulation . 115 (14): 1921–1932. doi : 10.1161/CIRCULATIONAHA.106.616011 . ... (March 2017). "Tachycardia-bradycardia syndrome: Electrophysiological mechanisms and future therapeutic approaches (Review)" . ... "Long term management of atrial arrhythmias in young patients with sick sinus syndrome undergoing early operation to correct congenital heart disease". ... "Dual-chamber pacemakers for treating symptomatic bradycardia due to sick sinus syndrome without atrioventricular block: a systematic review and economic evaluation" .
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Insr-Related Severe Syndromic Insulin Resistance
Gene_reviews
Summary Clinical characteristics. INSR -related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). ... Diagnosis No formal diagnostic criteria have been published to date for INSR -related severe syndromic insulin resistance, which comprises a phenotypic continuum from the severe phenotype Donohue syndrome to the milder phenotype Rabson-Mendenhall syndrome. Suggestive Findings INSR -related severe syndromic insulin resistance should be suspected in individuals with the following clinical, laboratory, and imaging findings of Donohue syndrome or Rabson-Mendenhall syndrome. ... Clinical Characteristics Clinical Description INSR -related severe syndromic insulin resistance comprises a phenotypic continuum from the severe phenotype Donohue syndrome to the milder phenotype Rabson-Mendenhall syndrome. ... Leprechaunism is a synonym of Donohue syndrome. Prevalence Donohue syndrome is extremely rare, estimated at 1:1,000,000 [Desbois-Mouthon et al 1997].
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Treacher Collins Syndrome
Wikipedia
Examples of these diseases are Nager syndrome and Miller syndrome . [ citation needed ] The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. ... See also [ edit ] First arch syndrome Franceschetti-Klein syndrome Hearing loss with craniofacial syndromes References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... PMID 12080178 . ^ "Treacher Collins Syndrome" . NORD ( National Organization for Rare Disorders ) . ... "Treacher Collins syndrome: correlation between clinical and genetic linkage studies". ... "First and second branchial arch syndromes: multimodality approach" (PDF) .
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6q25 Microdeletion Syndrome
Orphanet
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. ... Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears. Etiology This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3.
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Duane Anomaly-Myopathy-Scoliosis Syndrome
Orphanet
Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. ... Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent.
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Cataract-Glaucoma Syndrome
Orphanet
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Epidemiology This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. Etiology The syndrome is caused by dysfunction of the PITX3 gene (localised to 10q25).
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14q11.2 Microdeletion Syndrome
Orphanet
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. ... Clinical description All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. Etiology This syndrome is caused by an interstitial deletion encompassing 14q11.2.
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Myomatous Erythrocytosis Syndrome
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( September 2013 ) Myomatous erythrocytosis syndrome Specialty Hematology Myomatous erythrocytosis syndrome describes an excessive erythrocyte (red blood cells) production, occurring in about 0.5% of individuals affected by uterine leiomyomas ( fibroids ). This syndrome is believed to be caused by increased erythropoietin (EPO) production by the kidneys or by the leiomyomas themselves. [1] References [ edit ] ^ "Archived copy" .
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Haglund's Syndrome
Wikipedia
Haglund's syndrome Specialty Podiatry Haglund's syndrome is a group of signs and symptoms consisting of Haglund's deformity (which is an exostosis of the posterior calcaneal tuberosity) in combination with retrocalcaneal bursitis . [1] It is often accompanied by Achilles tendinitis . [2] Haglund's deformity typically presents with a prominent bump on the upper posterior calcaneus. ... ISBN 9780192630933 . ^ a b Vaishya, R.; Agarwal, A.K.; Azizi, A.T.; Vijay, V. (2016). "Haglund's syndrome: A commonly seen mysterious condition" .
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Lesch Nyhan Syndrome
Gard
Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. ... Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner.
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16q24.3 Microdeletion Syndrome
Orphanet
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. ... Anomalies of the brain and neonatal thrombocytopenia can be observed. Etiology This syndrome is caused by an interstitial deletion encompassing 16q24.3.
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Bain Type Of X-Linked Syndromic Intellectual Disability
Gard
Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. ... Some individuals also develop mental disorders such as anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and stereotyped behaviors. The syndrome has only been identified in females.
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Craniomicromelic Syndrome
Omim
The authors suggested that craniomicromelic syndrome is a distinct autosomal recessive disorder. Baralle and Firth (1999) reported a third case of craniomicromelic syndrome in a fetus at 29 weeks gestation. ... The authors concluded that this case provides further support for craniomicromelic syndrome as a distinct entity.
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Barraquer-Simons Syndrome
Gard
Barraquer-Simons syndrome , or acquired partial lipodystrophy , is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. ... Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis . ... Autoimmune disorders may also occur in association with this syndrome.
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Intermediate Dend Syndrome
Orphanet
Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition.