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Premature Greying Of Hair Wikipedia

"Mechanisms of repigmentation induced by photobiomodulation therapy in vitiligo" . Experimental Dermatology . 28 : 10–14. doi : 10.1111/exd.13823 .
- Graying Of Hair, Precocious Omim
  
  Clinical Features This trait is likely to have many causes. It is a feature of Book syndrome (112300), Waardenburg syndrome (193500), Lison syndrome (270750), and pernicious anemia. Probably a simple form of premature graying is inherited as a dominant. Hare (1929) described 9 affected in 5 generations, with 1 instance of male-to-male transmission. The hair began to turn at 17 or 18 years of age and was white at 25 or 26 years. In some persons with premature graying, black pigmentation of the eyebrows persists.
Charcot–bouchard Aneurysm Wikipedia

ISSN 1552-5783 . PMC 3943418 . ^ synd/28 at Who Named It? ^ C. J. Bouchard.
Chyluria Wikipedia

"Non-Parasitic Chyluria: Our Experience With Sclerotherapy With Solution of Povidone-Iodine and Destrose and A Review of the Literature" . Urology Case Reports . 8 : 28–30. doi : 10.1016/j.eucr.2016.05.010 .
Al-Raqad Syndrome Omim

One patient, who was born prematurely at 28 weeks' gestation, had microcephaly and severely delayed motor development with hypotonia and inability to walk.

DCPS, PITX2, FOXC1, GSEC, DLX2, FOXJ1, HMGN2, IL6, MYOC, PRKCA, PRKCB, TNF, PER2, SLC9A6, ENPEP, PRRT2, CYP1B1
- Al-Raqad Syndrome Wikipedia
  
  Al-Raqad syndrome Other names ARS Al-Raqad syndrome is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad . It's characterized by: Microcephaly Growth delay Psycho-motor developmental delay Congenital hypotonia . Al-Raqad syndrome is caused by mutation of DCPS gene . [1] References [ edit ] ^ "OMIM Entry - # 616459 - AL-RAQAD SYNDROME; ARS" . www.omim.org . Retrieved 2017-11-19 . External links [ edit ] NCBI MalaCards: The human disease database The Universal Protein Resource (UniProt) Classification D OMIM : 616459
Arteritic Anterior Ischemic Optic Neuropathy Wikipedia

UpToDate article "Clinical manifestations and diagnosis of giant cell (temporal) arteritis" ^ Sohan Hayreh , "Ischemic optic neuropathy", Progress in Retinal and Eye Research (2009) 28(1):34-62. [1] v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline

ACE, EPO, NOS3, PLXNA2
Non-Progressive Congenital Ataxia Wikipedia

. ^ Dudding, TE; Friend, K; Schofield, PW; Lee, S; Wilkinson, IA; Richards, RI (28 December 2004). "Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus".
Oocyte Maturation Defect 6 Omim

Clinical Features Dai et al. (2019) reported 2 Chinese sisters, aged 28 (patient II-4) and 30 years (II-3), and an unrelated 32-year-old Chinese woman (II-1) with unexplained primary infertility.

ZP3, ZP2, ZP1
Perfume Intolerance Wikipedia

Archived from the original on June 28, 2016 . Retrieved July 13, 2016 . ^ Caress S.
Urethrocele Wikipedia

Merck Manuals Professional Edition . Retrieved 2017-12-28 . ^ Ramaseshan, Aparna S.; Felton, Jessica; Roque, Dana; Rao, Gautam; Shipper, Andrea G.; Sanses, Tatiana V.
Immunodeficiency 15a Omim

He was noted to have hypogammaglobulinemia at age 18 years and subcutaneous abscesses at age 28 years. Further investigations revealed bronchiectasis and hepatosplenomegaly.

IKBKB
- Immunodeficiency 15b Omim
  
  A number sign (#) is used with this entry because of evidence that immunodeficiency-15B (IMD15B) is caused by homozygous mutation in the IKBKB gene (603258) on chromosome 8p11. Heterozygous mutation in IKBKB results in IMD15A (618204), a less severe immunodeficiency with later onset. Description Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).
- Severe Combined Immunodeficiency Due To Ikk2 Deficiency Orphanet
  
  Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Diencephalic Syndrome Wikipedia

"Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants" . Korean J Pediatr . 58 (1): 28–32. doi : 10.3345/kjp.2015.58.1.28 .
- Diencephalic Syndrome Orphanet
  
  Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors. Epidemiology The prevalence is unknown. Clinical description DS usually presents in infants or young children (mean age 6 months), but can also occur rarely in older children and adults. DS usually occurs in the presence of low grade astrocytoma/glioma brain tumors of the hypothalamus, which may extend into the optic pathway. These tumors are usually more aggressive and appear at a younger age when associated with DS. Rarely, DS can be secondary to craniopharyngioma, as well as other suprasellar tumors.
- Diencephalic Syndrome Gard
  
  Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon . The diencephalon includes the hypothalamus and the thalamus . This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus. Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma , dysgerminoma , and ganglioma . Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve .
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Omim

He also had developmental delay and development of a cerebral motor disorder in childhood, complicated pneumonia, and a marfanoid appearance. At 28 years of age he worked as a machine operator and was married.

SELENBP1
Nodular Sclerosis Wikipedia

It affects females slightly more than males and has a median age of onset at ~28 years. It is composed of large tumor nodules with lacunar Reed–Sternberg cell (RS cells) surrounded by fibrotic collagen bands.

KLHDC8B, HLA-DRB1, GJB2, LPP, CLEC16A, AHI1, UPF3A, HLA-DRB9, GATA3, SLC26A4, GJB6, PDLIM7, GJB3, RNR1, KRT20, IGH, TMC1, TNFRSF8, MS4A1, CCL17, CXCL9, MLC1, KCNQ4, ARHGAP44, CDC14A, TGFB1, NINL, BIRC5, DDX58, CD274, GPSM2, SPARC, TBC1D24, MIB1, TMPRSS3, GIPC3, RBM45, MIR127, TRBV20OR9-2, PLS1, SDC1, CCL22, BCL2, CCN2, CTSK, GSDME, DFNB13, DSPP, ELF3, ESRRB, HLA-DPB1, IFNG, IL13, IL13RA2, CXCL10, JAK1, JAK2, MITF, ABCC1, TRNS1, MYO6, ATM, REL, RNASE3, CCL11, MIR889
Anemia, Congenital Dyserythropoietic, Type Iv Omim

Arnaud et al. (2010) reported an infant boy, born at 28 weeks' gestation due to acute fetal distress, with congenital dyserythropoietic anemia.

KLF1, GATA1
- Congenital Dyserythropoietic Anemia Type Iv Orphanet
  
  Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Epidemiology The prevalence is unknown. Only 4 cases have been reported to date. Clinical description Patients have been described as having severe anemia at birth that requires repeated transfusions. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias) have also been reported. These cases showed increased levels of fetal hemoglobin, a very large number of nucleated red blood cells in peripheral blood and bone marrow erythroblast morphologic abnormalities.
- Congenital Dyserythropoietic Anemia Type Iv Wikipedia
  
  This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Congenital dyserythropoietic anemia type IV" – news · newspapers · books · scholar · JSTOR ( May 2015 ) ( Learn how and when to remove this template message ) Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified-serum test. [1] Congenital dyserythropoietic anemia type IV Specialty Hematology Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External links Presentation [ edit ] CDA type IV is characterized by mild to moderate splenomegaly . Hemoglobin is very low and patients are transfusion dependent. MCV is normal or mildly elevated. Erythropoiesis is normoblastic or mildly to moderately megaloblastic. Nonspecific erythroblast dysplasia is present. [2] Genetics [ edit ] Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia.
Coffin–siris Syndrome Wikipedia

"Coffin-Siris syndrome" . Journal of Medical Genetics . 28 (5): 338–41. doi : 10.1136/jmg.28.5.338 .

ARID1B, ARID1A, SMARCE1, SOX11, SMARCB1, SMARCA4, SMARCA1, SMARCA2, DPF2, ARID2, PHF6, SOX4, SMARCC2, BANF1, WG, SDHD, IL10, SDHB, SDHC, CMAS, IL17RB, CCL26, FAM3C, SDS, NIPBL, PTPN22, SMARCAL1, WNT16, PGR, TNFRSF10C, MYDGF, CD14, IL25, CPED1, ATR, ATM, SARDH, TNF, TNFSF10, EDN1, PRTN3, MPO, SET, MMP9, MMP2, ITGB2, IL5, FASLG, SORD, HLA-DRB4, HLA-DRB1, TRBV20OR9-2, TGFB1, TGFB2, PREP, FAS
- Coffin-Siris Syndrome Gene_reviews
  
  Summary Clinical characteristics. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. Diagnosis/testing. Before the molecular basis was known, the diagnosis of CSS was based on clinical findings. With the recent detection of heterozygous pathogenic variants in ARID1A , ARID1B , SMARCA4 , SMARCB1 , SMARCE1 , or SOX11 in some (but not all) individuals with CSS, the diagnostic features have become more clearly described for classic cases.
- Coffin-Siris Syndrome Orphanet
  
  A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations. Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. Exact prevalence and incidence are not known but the disorder is probably under-recognized. Clinical description Coffin-Siris syndrome is a clinically and genetically heterogeneous disorder. It involves a wide range of major and minor clinical findings. Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia (almost all patients at birth), and coarse facial features (commonly observed over time).
- Coffin-Siris Syndrome 9 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-9 (CSS9) is caused by heterozygous mutation in the SOX11 gene (600898) on chromosome 2p25. Description Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails (Tsurusaki et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Tsurusaki et al. (2014) applied whole-exome sequencing to 92 patients meeting the diagnostic criteria for Coffin-Siris syndrome (CSS; 135900) and identified 2 de novo SOX11 mutations in 2 unrelated female patients. Both patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
- Coffin-Siris Syndrome 6 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-6 (CSS6) is caused by heterozygous mutation in the ARID2 gene (609539) on chromosome 12q12. Description Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome 1 Omim
  
  Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, Wieczorek et al. (2013) identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows similar features. ... ARID1B mutations were the most common, found in 28 patients, and thus accounted for 68% of the mutation load.
- Coffin-Siris Syndrome 8 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-8 (CSS8) is caused by heterozygous mutation in the SMARCC2 gene (601734) on chromosome 12q13. Description Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose (Machol et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features As part of a study of 119 patients with undiagnosed genetic disorders analyzed by whole-exome sequencing, Zhu et al. (2015) identified a 7-year-old boy with failure to thrive, benign hydrocephalus, speech delay, hypotonia, elevated lactate and ammonia, vitiligo, and developmental delay.
- Coffin-Siris Syndrome 4 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-4 (CSS4) is caused by heterozygous mutation in the SMARCA4 gene (603254) on chromosome 19p13. The SMARCA4 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome 5 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-5 (CSS5) is caused by heterozygous mutation in the SMARCE1 gene (603111) on chromosome 17q21. Description Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome Medlineplus
  
  Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse.
- Coffin-Siris Syndrome 3 Omim
  
  Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, Wieczorek et al. (2013) identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows similar features.
- Coffin-Siris Syndrome 2 Omim
  
  Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, Wieczorek et al. (2013) identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows similar features.
- Coffin-Siris Syndrome 7 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-7 (CSS7) is caused by heterozygous mutation in the DPF2 gene (601671) on chromosome 11q13. Description Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Vasileiou et al. (2018) reported 8 unrelated patients with a neurodevelopmental disorder consistent with CSS. The patients, who ranged in age from 3 to 18 years, were ascertained from several collaborative groups.
- Coffin-Siris Syndrome Gard
  
  Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A , ARID1B , SMARCA4 , SMARCB1 , DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.
Ovarian Fibroma Wikipedia

Contents 1 Diagnosis 2 Treatment 3 Associations 4 References 5 External links Diagnosis [ edit ] ovrian fibroma in ultrasound Ovarian tumors by incidence and risk of ovarian cancer , with fibroma at right. [2] Diagnosis is usually made by ultrasonography showing a solid ovarian lesion, or, on some occasions, mixed tumors with solid and cystic components. [1] Computed tomography and magnetic resonance imaging can also be used to diagnose fibromas. In a series of 16 patients, 5 (28%) showed elevated levels of CA-125 . [1] Histopathology demonstrates spindle-shaped fibroblastic cells and abundant collagen. [3] Treatment [ edit ] Usually the lesion is surgically removed.

PTCH1, PTCH2, SUFU, MKI67, MIB1, MUC16
- Ovarian Fibromata Omim
  
  Dumont-Herskowitz et al. (1978) reported ovarian fibromata in 6 women in 5 sibships of 4 generations of a family. In most, presentation was in childhood. The pedigree was consistent with either autosomal or X-linked dominant inheritance with, of course, sex limitation. Ovarian tumors occur with the Peutz-Jeghers syndrome (175200) and with the basal cell nevus syndrome (109400). In the latter condition the ovarian tumors are fibromata and undergo calcification. No stigmata of basal cell nevus syndrome was found in the family reported by Dumont-Herskowitz et al. (1978).
- Ovarian Fibroma Orphanet
  
  A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.
Infestation Wikipedia

. ^ Harvard Medical School; Anthony L. Komaroff (28 December 2004). Harvard Medical School Family Health Guide .
Aortitis Wikipedia

Archived from the original on 14 July 2007 . Retrieved 2007-07-28 . ^ a b [Taber's Cyclopedic Medical Dictionary. 19th ed.

CSF3, CRP, ABO, ACR, HLA-B, IL1A, IL1B, IL17A, MPO, PCYT1A, TNF, SMUG1, MYDGF, IL25, CERNA3
Sinoatrial Arrest Wikipedia

"ABC of clinical electrocardiography" . Retrieved 2008-04-28 . v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever This article about a medical condition affecting the circulatory system is a stub .
Seckel Syndrome 9 Omim

Additional whole-exome sequencing in 28 patients with a presumptive diagnosis of Seckel syndrome identified a Turkish boy who was homozygous for a missense mutation (R18C; 605958.0002) in the TRAIP gene.

ATR, CENPJ, PCNT, ATRIP, TRAIP, CENPE, PLK4, CEP152, DNA2, LIG4, WDR4, RBBP8, ORC1, ORC4, IGF1, XRCC4, ORC6, DNMT3A, GMNN, CENPF, CDC6, CDT1, LZTR1, KRAS, PTPN11, RAF1, CEP63, SOS1, RIT1, RTTN, NIN, ATM, AIMP2, GRAP2, BRCA1, CD5L, CD69, MCPH1, CHEK1, LARP7, CRK, MAPK14, DONSON, POLDIP2, DNMT1, RNF19A, FANCA, FANCC, PNKP, FAH, H2AX, AHSA1, MAPK1, TELO2, CEP135, TUBGCP6
- Seckel Syndrome Gard
  
  Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. About less than 25% of the patients also have blood abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes , according to the specific gene alteration (mutation ). Treatment is supportive.
- Microcephaly 13, Primary, Autosomal Recessive Omim
  
  A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-13 (MCPH13) is caused by compound heterozygous mutation in the CENPE gene (117143) on chromosome 4q24. One such family has been reported. For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). Clinical Features Mirzaa et al. (2014) reported a brother and sister, born of unrelated parents of European descent, with microcephaly, poor overall growth, and developmental delay. Both had intrauterine growth retardation and microcephaly apparent on prenatal ultrasound, as well as similar dysmorphic facial features, including sloping forehead, prominent nose, and mild micrognathia. At age 5 years, the older sib, a boy, had microcephaly (-9 SD), short stature (-7 SD), small hands and feet, mild spasticity, and severely delayed psychomotor development with absent speech and poor gross and fine motor skills.
- Seckel Syndrome Orphanet
  
  Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
- Seckel Syndrome Wikipedia
  
  Seckel syndrome Other names Harper's syndrome Specialty Medical genetics Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1] ) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive . [2] It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head , narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures , [3] receding mandible and intellectual disability . A mouse model has been developed. [4] This mouse model is characterized by a severe deficiency of ATR protein. [4] These mice suffer high levels of replicative stress and DNA damage . Adult Seckel mice display accelerated ageing. [4] These findings are consistent with the DNA damage theory of aging . Contents 1 Symptoms and signs 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 See also 7 References 8 External links Symptoms and signs [ edit ] Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth weight dislocations of pelvis and elbow unusually large eyes low ears small chin Genetics [ edit ] It is believed to be caused by defects of genes on chromosome 3 and 18 .
- Seckel Syndrome 1 Omim
  
  A number sign (#) is used with this entry because Seckel syndrome-1 (SCKL1) is caused by homozygous or compound heterozygous mutation in the ATR gene (601215) on chromosome 3q23. Description Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel Syndrome Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; and SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24. The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section. Clinical Features This condition was given the 2 names bird-headed dwarfism and nanocephaly by Virchow.
- Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 Omim
  
  A number sign (#) is used with this entry because of evidence that autosomal recessive microcephaly and chorioretinopathy-2 (MCCRP2) is caused by homozygous mutation in the PLK4 gene (605031) on chromosome 4q28. Description Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014). For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270). Clinical Features Martin et al. (2014) reported 7 members of a highly consanguineous Pakistani family with a severe developmental disorder characterized by primary microcephaly (up to -15 SD), profoundly delayed psychomotor development, and growth retardation with dwarfism (up to -8 SD). Many patients had ocular abnormalities, including microphthalmia, microcornea, and cataracts.
- Seckel Syndrome 2 Omim
  
  A number sign (#) is used with this entry because of evidence that Seckel syndrome-2 (SCKL2) is caused by homozygous mutation in the RBBP8 gene (604124) on chromosome 18q11. Jawad syndrome (251255), a microcephaly syndrome involving mental retardation and digital anomalies, is also caused by mutation in the RBBP8 gene. Description Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). Clinical Features Borglum et al. (2001) studied a consanguineous family of Iraqi descent with Seckel syndrome.
- Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity Omim
  
  Woods et al. (1995) reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia.
- Seckel Syndrome 8 Omim
  
  A number sign (#) is used with this entry because of evidence that Seckel syndrome-8 (SCKL8) is caused by homozygous mutation in the DNA2 gene (601810) on chromosome 10q21. One such family has been reported. Description Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). Clinical Features Shaheen et al. (2014) studied an uncle and niece, both born of consanguineous marriages, with short stature and strikingly similar facial features consistent with Seckel syndrome. Both uncle and niece had decreased length at birth (-4.9 and -5.1 SD, respectively) and continued to have short stature at ages 18 years and 9 years (-9.5 and -6 SD) as well as severe microcephaly (-7.5 and -11.8 SD).
- Seckel Syndrome 5 Omim
  
  A number sign (#) is used with this entry because Seckel syndrome-5 is caused by homozygous or compound heterozygous mutation in the CEP152 gene (613529) on chromosome 15q21. Description Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. Clinical Features Kalay et al. (2011) clinically evaluated 5 consanguineous families with Seckel syndrome originating from an isolated rural area in Turkey. The patients presented with microcephaly, sloping forehead, high nasal bridge, beaked nose, and retrognathia.
- Seckel Syndrome 4 Omim
  
  A number sign (#) is used with this entry because of evidence that Seckel syndrome-4 (SCKL4) is caused by homozygous mutation in the CENPJ gene (609279) on chromosome 13q12. One such family has been reported. Homozygous mutations in the CENPJ gene can also cause primary microcephaly-6 (MCPH6; 608393). Description Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002). For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. Clinical Features Al-Dosari et al. (2010) described a consanguineous Saudi family in which several members had clinical features of Seckel syndrome.