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Bobble-Head Doll Syndrome
Wikipedia
The syndrome is related to cystic lesions and swelling of the third ventricle in the brain. ... Early diagnosis and treatment is highly important in successful treatment of bobble-head doll syndrome. [2] Epidemiology [ edit ] The rarity of the syndrome is such that, since 1966, only 34 cases have been reported. ... F., Cardoso, F., & Da Silva, M. C. (2007). Bobble-head doll syndrome associated with Dandy-Walker syndrome. ... Bobble-head doll syndrome: A surgically treatable condition manifested as a rare movement disorder. ... K., & Grabb, P. S. (1997). Bobble-head doll syndrome: Report of a case and review of the literature.
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Bardet-Biedl Syndrome Overview
Gene_reviews
Summary The purpose of this overview is to increase the awareness of clinicians regarding the causes of Bardet-Biedl syndrome and related genetic counseling issues. ... Describe the clinical characteristics of Bardet-Biedl syndrome. Goal 2. Review the genetic causes of Bardet-Biedl syndrome. ... Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible). Goal 4. Review management of Bardet-Biedl syndrome. Goal 5. Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.
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Tetrasomy X
Wikipedia
Please help to improve this article by introducing more precise citations. ( January 2014 ) ( Learn how and when to remove this template message ) Tetrasomy X Specialty Medical genetics Tetrasomy X (also called XXXX syndrome , quadruple X , or 48,XXXX ) is an extremely rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes. [1] This condition occurs only in females, as there are no Y chromosomes present that could trigger male development . ... Several cardiac defects have also been reported, including ventricular/atrial septal defects , atresia , hypoplastic right heart syndrome , patent ductus arteriosus , and conotruncal or valvular cardiac defects. ... Other species In the echidna , this kind of chromosomal arrangement is normal, with genetic sex differentiated as follows: 63 (X 1 Y 1 X 2 Y 2 X 3 Y 3 X 4 Y 4 X 5 , male) and 64 (X 1 X 1 X 2 X 2 X 3 X 3 X 4 X 4 X 5 X 5 , female) [4] See also Triple X syndrome Pentasomy X References ^ "Tetrasomy X | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... External links Classification D ICD - 10 : Q97.1 MeSH : C536502 DiseasesDB : 32550 Tetrasomy & Pentasomy X Syndrome Information and Support 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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Waardenburg Syndrome
Wikipedia
Genetic condition involving hearing loss and depigmentation Waardenburg syndrome Other names Klein–Waardenburg syndrome (type 3), Shah–Waardenburg syndrome (type 4) Facial features of Waardenburg syndrome type 1 (from Jan van der Hoeve's description, 1916) Specialty Medical genetics Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye ), a white forelock or patches of light skin. ... Most types of Waardenburg syndrome are caused by autosomal dominant mutations. ... Retrieved 2018-04-17 . ^ "Waardenburg syndrome" . Genetics Home Reference . October 2012. ^ a b "OMIM Entry - # 608890 - WAARDENBURG SYNDROME, TYPE 2D; WS2D" . omim.org . ... E.; Pandya, A. (2001). "Waardenburg syndrome type 3 (Klein–Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?". ... S2CID 36749688 . ^ "Orphanet: Waardenburg syndrome type 1" . www.orpha.net . Retrieved 2019-12-10 . ^ "Waardenburg syndrome type II" (PDF) .
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Camptodactyly
Wikipedia
A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons. [2] A number of congenital syndromes may also cause camptodactyly: Jacobsen syndrome Beals syndrome [3] Blau syndrome Freeman–Sheldon syndrome Cerebrohepatorenal syndrome Weaver syndrome Christian syndrome 1 Gordon syndrome Jacobs arthropathy-camptodactyly syndrome Lenz microphthalmia syndrome Marshall–Smith–Weaver syndrome Oculo-dento-digital syndrome Tel Hashomer camptodactyly syndrome Toriello–Carey syndrome Trisomy 13 Stuve–Wiedemann syndrome Loeys–Dietz syndrome Fetal alcohol syndrome Fryns syndrome [4] Marfan syndrome [5] Carnio-carpo-tarsal dysthropy [5] Genetics [ edit ] Example of a pedigree of Camptodactyly inheritance The pattern of inheritance is determined by the phenotypic expression of a gene—which is called expressivity . [6] Camptodactyly can be passed on through generations in various levels of phenotypic expression, which include both or only one hand. ... (February 1986). "A case of Fryns syndrome" (PDF) . Journal of Medical Genetics . 23 (1): 82–88. doi : 10.1136/jmg.23.1.82 .
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Holiday Heart Syndrome
Wikipedia
Holiday heart syndrome Specialty Cardiology Holiday heart syndrome is an irregular heartbeat pattern presented in individuals who are otherwise healthy. ... Atrial fibrillation is the most common arrhythmia in holiday heart syndrome. Symptoms usually resolve themselves within 24 hours. ... American Heart Journal . 95 (5): 555–562. doi : 10.1016/0002-8703(78)90296-x . PMID 636996 . ^ "Holiday heart syndrome — definition from Biology-Online.org" . ... PMC 3998158 . PMID 24030078 . Holiday Heart Syndrome at eMedicine Menz V, Grimm W, Hoffmann J, Maisch B (August 1996). "Alcohol and rhythm disturbance: the holiday heart syndrome". Herz . 21 (4): 227–31. PMID 8805002 .
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Sick Sinus Syndrome
Medlineplus
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats . ... The incidence of this condition increases with age. Causes Sick sinus syndrome can result from genetic or environmental factors. ... These changes lead to abnormal heartbeats and the other symptoms of sick sinus syndrome. A particular variation in another gene, MYH6 , appears to increase the risk of developing sick sinus syndrome. ... In older adults, sick sinus syndrome is often associated with age-related changes in the heart. ... Learn more about the genes associated with Sick sinus syndrome HCN4 MYH6 SCN5A Inheritance Pattern Most cases of sick sinus syndrome are not inherited.
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Pigmented Purpuric Dermatosis
Wikipedia
There may be overlapping characteristics among pigmented purpuric dermatosis and between their signs and those of other purpuric eruptions. [1] : 829 Examples of the pigmented purpuric dermatosis group include: [1] : 829–30 Schamberg's disease Majocchi's disease (Purpura annularis telangiectodes) Gougerot-Blum syndrome (Pigmented purpuric lichenoid dermatitis) Ducas and Kapetanakis pigmented purpura Lichen aureus Although vascular damage may be present, it is insufficient for these conditions to be considered forms of vasculitis . [2] A few very small non-blinded studies of treatment with narrow-band ultraviolet light have been reported as promising. [3] See also [ edit ] Purpura Skin lesion List of cutaneous conditions References [ edit ] ^ a b c James, William D.; Berger, Timothy G.; et al. (2006). ... Retrieved 22 May 2010 . ^ Summarized in 2015 by Tapan Kumar Dhali, Monica Chahar, and Mohammad Asad Haroon in Phototherapy as an effective treatment for Majocchi's disease - Case report An Bras Dermatol. 2015 Jan-Feb; 90(1): 96–99. doi : 10.1590/abd1806-4841.20153067 PMC 4323703 PMID 25672304 External links [ edit ] Classification D ICD - 10 : L81.7 OMIM : 172900 MeSH : C537186 DiseasesDB : 30753 External resources eMedicine : article/1084594 v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This cutaneous condition article is a stub .
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Gray Platelet Syndrome
Wikipedia
Gray platelet syndrome Other names Platelet alpha-granule deficiency Gray platelet syndrome is inherited in an autosomal recessive manner. ... "The gray platelet syndrome: clinical spectrum of the disease". ... (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p" . ... "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome" . Nat. Genet . 43 (8): 738–40. doi : 10.1038/ng.884 . ... "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules" .
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Hair-An Syndrome
Wikipedia
The patient affected by HAIR-AN syndrome has insulin resistance inside their body. ... Knowing the cause of these three might provide one with some useful data that connects or links with the causes of HAIR-AN syndrome. SAHA syndrome is also taken in consider among the source that cause HAIR-An syndrome. [7] Diagnosis [ edit ] The preferable way to diagnose the presence of this syndrome would be to use the help of clinical tests and medical reports after the tests and examinations. ... It is found out that women affected by this syndrome or PCOS (polycystic ovary syndrome) are generally accompanied by obesity. ... "HAIR-AN Syndrome" . fpnotebook.com . Retrieved 2017-04-03 . ^ Taylor, Ann E. (1998). ... "Polycystic ovary syndrome: clinical perspectives and management".
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Costeff Syndrome
Medlineplus
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. ... While some people with Costeff syndrome have mild to moderate intellectual disability, many have normal intelligence. ... As a result of these movement difficulties, individuals with Costeff syndrome may require wheelchair assistance. ... People with Costeff syndrome also have high levels of another acid called 3-methylglutaric acid in their urine. ... OPA3 gene mutations that result in Costeff syndrome lead to a loss of OPA3 protein function.
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Classic Bartter Syndrome
Orphanet
Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Epidemiology Exact prevalence of Classic Bartter syndrome is not known. It is by far the most frequent type of Bartter syndrome. Clinical description Classic Bartter syndrome is characterized by a milder clinical picture with a wide phenotypic heterogeneity when compared to other subtypes of Bartter syndrome. ... CLCNKB mutations define classic Bartter syndrome; however, genes other than CLCNKB (those that are usually associated with other types of Bartter syndrome) may less commonly cause the classic, less severe phenotype, such as SLC12A1 and KCNJ1 . ... Differential diagnosis The differential diagnosis includes pseudo-Bartter syndrome (diuretic abuse, surreptitious vomiting), cystic fibrosis, Gitelman syndrome, and celiac disease (see these terms).
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Barré–liéou Syndrome
Wikipedia
Barré–Liéou syndrome Other names Posterior cervical sympathetic syndrome Barré–Liéou syndrome is a traditional medical diagnosis that is not utilized frequently in modern medicine. [1] It is a complex combination of symptoms, amounting to a headache syndrome, that was originally hypothesized to be due to cervical spondylosis . [2] Damage to the posterior cervical sympathetic chain due to the degeneration of the cervical vertebra was theorized to play a role in this syndrome by the prolapsing of disc in the mid-cervical spine. However, the medical theory as was originally postulated was found to contain inconsistencies. [1] [2] [3] Barré–Liéou syndrome is regarded by many current medical researchers as synonymous with cervicogenic headache . Thus, the original works of Barré and Liéou were foundational in identifying a crucial feature that distinguishes cervicogenic headache from other headache syndromes—the concept that the pain originates from a structural abnormality in the cervical spine. [4] Contents 1 Symptoms 2 Diagnosis 3 History 4 References Symptoms [ edit ] Patients with Barré–Liéou syndrome may have complaints of: [5] Headache Neck pain Orofacial pain Ear pain Toothache Tinnitus Nasal congestion Diagnosis [ edit ] One test to check for Barré–Liéou syndrome is through the use of thermography . An MRI study may also be conducted to rule out any structural problems in the neck which may be the cause of this syndrome. [5] Some of the treatments for this disorder consist of sympathetic nerve blocks , physical therapy , neck brace and traction. [1] [5] History [ edit ] The syndrome was first described in 1925 by French neurologist Jean Alexandre Barré . Chinese physician Yong-Cheon Lieou also independently described the syndrome in 1928. [5] References [ edit ] ^ a b c Bogduk, N. (2009).
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Nail-Patella Syndrome
Medlineplus
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. ... Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. ... Frequency The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals. ... It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome. Learn more about the gene associated with Nail-patella syndrome LMX1B Inheritance Pattern Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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Werner Syndrome
Medlineplus
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. ... The most common causes of death are cancer and atherosclerosis. Frequency Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people. ... Learn more about the gene associated with Werner syndrome WRN Inheritance Pattern Werner syndrome is inherited in an autosomal recessive pattern , which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.WRN, BLM, HFM1, TP53, PARP1, RECQL4, LMNA, SERPINE1, FEN1, RAD51, POLB, XRCC6, IGFBP3, FN1, AHSA1, PRKAR1A, H2AX, GRAP2, PCNA, RECQL5, MRE11, XRCC5, EFEMP1, TGFB1, RECQL, MLH1, AIMP2, GYPA, MAPK1, ATR, WRNIP1, RNF19A, CRK, MAPK14, POLDIP2, SLC35G1, TAGLN, RAC1, MIR200C, CHD9, TFRC, APLF, BRIP1, TERT, GTF2IRD2, RPS3, PIWIL4, SSRP1, TOP3A, SLC20A1, SLC2A1, RPS6KA3, TIMP1, MON2, NEIL1, SIRT6, MMRN1, SAMHD1, RBPMS, PRPF19, DDX46, POLL, DESI1, EXD3, ENOSF1, ADIPOQ, PIWIL1, EXO1, CES2, DHX16, RAD54L, DDX19A, SUMO1, ABL1, PPP2CB, PPARG, GOLGA3, GCK, MTOR, FGFR1, FANCD2, EWSR1, ERCC4, ERCC1, DNA2, DKC1, DHX9, ACE, DCN, COL3A1, CKMT2, CDKN2A, CDC42, CAT, CASP1, CALCA, BRCA1, ATM, APOA1, APEX1, ANK1, HOXA@, HOXA1, HOXA3, KDR, POU1F1, POLD1, PLIN1, PLG, ACTB, OGG1, NBN, MYC, MECP2, MBNL1, LIG4, INSR, HOXA4, IL1B, IL1A, IGF2, ICAM1, HOXA13, HOXA11, HOXA10, HOXA9, HOXA7, HOXA6, HOXA5, H3P10
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Renal Dysplasia-Limb Defects Syndrome
Wikipedia
Renal dysplasia-limb defects syndrome Other names Ulbright–Hodes syndrome Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance. Renal dysplasia-limb defects syndrome ( RL syndrome ), also known as Ulbright–Hodes syndrome , [1] is a very rare [2] autosomal recessive congenital disorder . [3] [4] It has been described in three infants, all of whom died shortly after birth. [5] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Presentation [ edit ] RL syndrome is characterized by renal dysplasia , growth retardation , phocomelia or mesomelia , radiohumeral fusion (joining of radius and humerus ), rib abnormalities, anomalies of the external genitalia and potter-like facies among many others. [5] [6] Genetics [ edit ] RL syndrome is inherited in an autosomal recessive manner. [3] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. ... "Prenatal diagnosis of Ulbright-Hodes syndrome". Journal of Ultrasound in Medicine . 28 (3): 385–388. doi : 10.7863/jum.2009.28.3.385 . ... "Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome". American Journal of Medical Genetics . 37 (1): 133–135. doi : 10.1002/ajmg.1320370131 . PMID 2240030 . ^ "RL syndrome at Wrongdiagnosis.com" . Retrieved July 27, 2010 . ^ a b "ORPHANET - About rare diseases - Ulbright-Hodes syndrome" .
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Menkes Syndrome
Medlineplus
Menkes syndrome is a disorder that affects copper levels in the body. ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. ... Frequency The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns. ... The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes. Learn more about the gene associated with Menkes syndrome ATP7A Inheritance Pattern Menkes syndrome is inherited in an X-linked recessive pattern .
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Nephrotic Syndrome, Type 4
Omim
Mutation in the WT1 gene can also cause isolated Wilms tumor (194070), as well as Denys-Drash syndrome (DDS; 194080), which is characterized by nephrotic syndrome and the additional features of male pseudohermaphroditism, with or without Wilms tumor. Description Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). ... Schumacher et al. (1998) identified WT1 mutations in 10 children with early-onset nephrotic syndrome. Two genotypically female girls had isolated congenital/infantile nephrotic syndrome. ... End-stage renal disease was reached either concomitantly or within 4 months after onset of nephrotic syndrome in 7 patients. Four children developed Wilms tumor either before or concomitant with nephrotic syndrome. ... Ito et al. (2001) described 7 Japanese patients with nephrotic syndrome associated with diffuse mesangial sclerosis.
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Qazi–markouizos Syndrome
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( September 2012 ) Qazi–Markouizos syndrome Other names Dysharmonic skeletal maturation-muscular fiber disproportion syndrome [1] Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia , severe intellectual disability, an increased proportion of type 2 muscle fibers , which additionally exhibited increased size, as well as dysharmonic skeletal maturation . [2] [3] To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome, [4] remains unknown. References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Qazi Markouizos syndrome" . www.orpha.net . Retrieved 16 March 2019 . ^ Qazi, QH; Markouizos, D; Rao, C; Sheikh, T; Beller, E; Kula, R (May 1994). "A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion" . ... "Dysharmonic maturation of the hand in the congenital malformation syndromes" (PDF) . American Journal of Physical Anthropology . 35 (3): 417–32. doi : 10.1002/ajpa.1330350322 . PMID 4332712 . ^ OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME [ permanent dead link ] External links [ edit ] Classification D OMIM : 600096 MeSH : C536259 Online Mendelian Inheritance in Man (OMIM): 600096
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Alopecia Contractures Dwarfism Mental Retardation Syndrome
Wikipedia
Alopecia contractures dwarfism mental retardation syndrome Other names Alopecia-contractures-dwarfism-intellectual disability syndrome Specialty Neurology, Genetic disorder Alopecia contractures dwarfism mental retardation syndrome or ( ACD mental retardation syndrome ) is a developmental disorder which causes mainly baldness and dwarfism in combination with intellectual disability ; skeletal anomalies, caries and nearsightedness are also typical. [1] The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. ... Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or possibly a dominant mutation caused by mosaicism as causes of this syndrome. [2] References [ edit ] ^ "Alopecia-contractures-dwarfism-intellectual disability syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . ... Retrieved 18 November 2016 . ^ Miroslav Dumić, Marijana Cvitanovic, Jasenka Ille, Kristina Potocki: Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies, AJMG American Journal of Medical Genetics, Volume 93, 3 July 2000; Abstract on Wiley Online Library [1] Johns Hopkins University: OMIM, Online Mendelian Inheritance in Man, MIM ID 203550 External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 203550 MeSH : C537051 External resources Orphanet : 1005 This genetic disorder article is a stub .