1684 Links. links linking info. 1684. Features described and illustrated in1684 suggesting meckelgruber syndrome. link In 1684, Mr. Christopher http://mind-brain.com/abstracts.php?qa=1684
Oral-Facial-Digital Syndrome, Type I oralfacial-digital syndrome types II, III, IV, V, VI, IX. cystic renal disease.meckel-gruber syndrome. Etiology genetic. Tissue of Origin embryonic tissue. http://www.dental.mu.edu/oralpath/lesions/oralfacialdigital/oralfacialdigital.ht
Extractions: Clinical Features: prenatal, birth or later after polycystic kidney disease is identified occurs only in females oral anomalies: lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival ferrule, hypodontia and other dental abnormalities facial anomalies: (ocular hypertelorism or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, and micrognathia digital anomalies: brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands central nervous system and urinary system are affected possible mild mental retardation Differential Diagnosis: oral-facial-digital syndrome type I oral-facial-digital syndrome types II, III, IV, V, VI, IX
Diseases Lowe Syndrome. MachadoJoseph. Mannosidosis. McArdle s. meckel-gruber syndrome.Mobius Syndrome. Nail Patella Syndrome. Noonan Syndrome. Opitz Syndrome. Organizations. http://diseases.health.designerz.com/diseases-directory.php
JUM -- Abstracts: Nyberg Et Al. 9 (12): 691 meckelgruber syndrome. Recurrence of meckel-gruber syndrome may be evaluatedas soon as 14 weeks, but it may not be reliably excluded until 20 weeks. http://www.jultrasoundmed.org/cgi/content/abstract/9/12/691
Extractions: Department of Ultrasound, Swedish Hospital Medical Center, Seattle, Washington. Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in
Blackwell Synergy - Cookie Absent Distribution of myofibroblastic cells in the liver and kidney of MeckelGrubersyndrome. meckel-gruber syndrome A lethal combination of abnormalities. http://www.blackwell-synergy.com/links/doi/10.1111/j.1440-1827.2004.01586.x/abs/
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Meckel's Syndrome (www.whonamedit.com) Also known as GruberMeckel syndrome meckel-gruber syndrome Grubers syndromevon Hippel-Lindau syndrome Simopoulos syndrome Synonyms Dysencephalia http://www.whonamedit.com/synd.cfm/2055.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A lethal malformation complex characterised by occipital encephalocele, polycystic kidneys, polydactyly, microcephaly, microphthalmia, clefted palate, cataracts, congenital heart defect, genital anomalies, abnormal facies, and polycystic degeneration of the kidneys, liver, and pancreas. Polydactyly, the most common skeletal feature, involves all four limbs and presents hexadactyly, heptodactyly, or even a greater number of digits. Anencephaly and/or agenesis or hypoplasia of the cerebellum may occur. Death occurs within days or weeks. Aetiology unknown. Prevalent in females; present from birth. Inheritance is autosomal recessive, parental consanguinity occurring in some cases.
Hippel-Lindau Disease (www.whonamedit.com) retina (Lindau s disease). The term von HippelLindau syndrome has been used asa synonym for meckel-gruber syndrome, or splanchnocystic dyscephalia syndrome. http://www.whonamedit.com/synd.cfm/2057.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Angiomatosis retinae, angiomatosis retinae cystica, angiophacomatosis, angioreticuloma cerebelli, cerebello retina angiomatosis, cerebelloretinal haemangioblastomatosis, cerebroretinal syndrome, haemangioblastomatosis, hereditary haemangiomatosis of the central nervous system, retinal angiomatosis, retinal capillary hamartoma, retinocerebral angiomatosis, viscerocystic retinoangiomatosis syndrome. A syndrome characterised by angiomatosis of the retina, haemangioblastoma of the cerebellum and walls of the fourth ventricle, commonly associated with polycystic lesions of the kidney and pancreas. Inheritance is autosomal dominant with variable clinical expression. Very long list of ocular features. The syndrome is transmitted as an autosomal dominant trait with varying expression, the symptoms not being apparent until the third decade of life.
Extractions: Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
MUMS List Of Disorders - M Disease (1) *; McCuneAlbright Syndrome (6) **; Measles Vaccine (badreaction) (9) *; meckel-gruber syndrome (2); Meckels Diverticulum http://www.netnet.net/mums/mum_m.htm
Extractions: indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/ Macrodactyly (Large toes or fingers) (2) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org
Conditions And Diseases: Genetic Disorders: Meckel-Gruber Syndrome Health and Home. meckelgruber syndrome. families. http//www.meckel-gruber.com/.meckel-gruber syndrome. Last Update Mon May 10 2004. http://www.health-home.net/Conditions_and_Diseases/Genetic_Disorders/Meckel-Grub
Special Needs Family Fun - Encephaloceles Emedicine meckel-gruber syndrome - http//www.emedicine.com/ped/topic1390.htm Meckel-Grubersyndrome (MKS) (OMIM 24900) is a lethal, rare autosomal recessive http://www.specialneedsfamilyfun.com/files/encephaloceles.html
Extractions: Cephalocele, dehiscence of intracranial tissue through an abnormal cranial opening, usually a congenital defect in the skull and dura. According to the type of the herniating structure cephaloceles... Atlas of Fetal MRI - http://134.174.229.219/radiology/research/mri/fetalatlas/brain/encephalocele/encephalocele.html
Extractions: Cystic Fibrosis Book Store At WellnessBooks.com - Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products - We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! - Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Organizations s Personal Pages s Aarskog Syndrome s Aase Syndrome s Ablepharon-Macrostomia Syndrome s s s Adrenoleukodystrophy s s Alagille Syndrome s Albinism s Alkaptonuria s s Alpha-1 Antitrypsin Deficiency s s s s Arthrogryposis s Ataxia s Autism s Bardet-Biedl_Syndrome s s Batten s Beckwith-Wiedemann Syndrome s Canavan s Celiac s s Charcot-Marie-Tooth_Disease s s s Coffin Lowry Syndrome s s s s Costello Syndrome s Cowden Syndrome s Craniofrontonasal Dysplasia s Crigler-Najjar Syndrome s s Cystic Fibrosis s Cystinosis s DiGeorge Syndrome s Down Syndrome s Dubowitz Syndrome s Dwarfism s Ectodermal Dysplasia s Ehlers-Danlos_Syndrome s s s s Familial Hypercholesterolemia s s Fatty Oxidation s Floating-Harbor Syndrome s Fragile X Syndrome s s Galactosemia s Gaucher's s Glutaricaciduria s s Hailey-Hailey Disease s Hallervorden-Spatz_Syndrome s Hemihypertrophy s Hemochromatosis s Hemophilia s Hereditary Angioedema s Hereditary Spastic Paraplegia s Homocystinuria s Huntington's s Hydrocephalus s
Sociedad Argentina De Radiología Translate this page diagnosis of congenital malformations, even in cases of complex anomalies, such asthe body stalk anomaly and the meckel-gruber syndrome, providing information http://www.sar.org.ar/06revista/062-042.asp
Extractions: Dres. Gabriela Romano, Carlos Sessarego, Adriana Pavicich, Ivana Bacci, Isabel Vaselli. Resumen La presente comunicación ratifica la ya conocida utilidad del método ecográfico en el diagnóstico de malformaciones congénitas, aún en el caso de anomalías complejas como las que se describen, aportando información que facilita los diagnósticos diferenciales y ayuda a decidir el abordaje obstétrico y el posible tratamiento. Palabras clave: anomalías fetales, complejo miembro-pared, Síndrome de Meckel-Gruber, ecografía. Summary This communication ratifies the already known usefulness of ultrasound studies in the diagnosis of congenital malformations, even in cases of complex anomalies, such as the body stalk anomaly and the Meckel-Gruber Syndrome, providing information that facilitates differential diagnosis and helps in the decision about the obstetrics approach and the possible treatment. Key words: Fetal malformations, Body stalk Syndrome, Meckel-Gruber Syndrome, US.
Genetic Disorders Joseph (7); Mannosidosis (2); Marfan Syndrome@ (38); McArdle s (2);meckelgruber syndrome (4); Menkes Syndrome@ (6); Mobius Syndrome(5 http://www.oobdoo.com/directory/Health/ConditionsandDiseases/GeneticDisorders/
Extractions: See Also: Health: Conditions and Diseases: Congenital Anomalies Health: Conditions and Diseases: Rare Disorders Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
Birth Disorder Information Directory - G GAPO syndrome. Gruber syndrome See Meckel (Gruber) syndrome. Guizar VasquezLuengas syndrome (Corneal Dystrophy with Epithelial and Short Stature) http://www.bdid.com/defectg.htm
