The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

ORPHA:1046 Synonym(s): Water-West syndrome Prevalence: Inheritance: Unknown Age of onset: Neonatal ICD-10: D58.8 OMIM: 600461 UMLS: C1838120 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only [orpha.net]

One third of cases present with fever and neurologic symptoms (irritability, seizures or coma). Atypical HUS (D- HUS) Diarrhea is not a presenting feature. Streptococcus pneumoniae is the causative organism in 40% of cases. [clinicaladvisor.com]

In these cases the small amount of thymus tissue present provides adequate T-lymphocyte function. [primaryimmune.org]

In warm antibody hemolytic anemia, IgG is nearly always present, and C3 (C3b and C3d) may be present as well. In cold antibody disease, C3 is present while IgG is usually absent. [msdmanuals.com]

• Inflammation

  […] after Diarrhea 719 96 Necrotizing Enterocolitis 724 97 Surgical Treatment of Necrotizing Enterocolitis 731 Overview 735 99 Pathophysiology of Coagulation and Deficiencies of Coagulation Factors in the Newborn 748 Risk of Thrombosis in the Newborn 763 Inflammation [books.google.com]

  PATHOLOGY: Transmural, aseptic inflammation of bladder. Urine cultures come back negative -- no bugs causing the inflammation. Linear cracks in mucosa. Ulcer : Bladder epithelium becomes denuded and can ulcerate. [kumc.edu]

  Shiga-toxin causes complement-mediated platelet, leukocyte, and endothelial cell activation, resulting in systemic hemolysis, inflammation and thrombosis. [37] [38] [39] Severe clinical complications of TMA have been reported in patients from 2 weeks [en.wikipedia.org]

  The bacterium induces vascular endothelial inflammation, which results in secondary fibrosis and tissue damage. In cases where a large number of organs is affected, stillborn rate is high. [atlases.muni.cz]

  607115 606416 Autosomal dominant NLRP3 1q44 Familial cold-induced inflammatory syndrome 1 120100 606416 Autosomal dominant NLRP3 1q44 Muckle-Wells syndrome 191900 606416 Autosomal dominant NLRP3 1q44 Deafness, autosomal dominant 34, with or without inflammation [mnglabs.com]

• Pathologist

  All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]

• Rigor

  By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]

• Respiratory Insufficiency

  Affiliated tissues include lung, and related phenotypes are respiratory insufficiency and anemia Description from OMIM: 600461 Human phenotypes related to Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities: 60 33 [malacards.org]

  Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. [mendelian.co]

• Hepatosplenomegaly

  External Genitalia Male: hypospadias small penis Skeletal Hands: deep plantar creases Abdomen Spleen: hepatosplenomegaly Skeletal Feet: increased space between first and second toes Clinical features from OMIM: 600461 Genetic tests related to Hemolytic [malacards.org]

  The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. [orpha.net]

  STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN Is also known as glut1 deficiency syndrome with pseudohyperkalemia and hemolysis, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [mendelian.co]

  Pictures Fetus, syphilis: Congenital syphilis, Macro, autopsy (72090) Congenital syphilis, Macro, autopsy (72091) Fetus, syphilis, hepatosplenomegaly: Congenital syphilis, hepatosplenomegaly, Macro, autopsy (72093) Syphilis congenita, hepatosplenomegaly [atlases.muni.cz]

  The clinical picture is characterized by very severe anemia (Hb level, 3–8 g/dL), marked hepatosplenomegaly, hydrops fetalis, and cardiac failure. 14 Other congenital abnormalities, particularly of the cardiac and skeletal and urogenital system, have [nature.com]

• Microstomia

  Pictures Growth retardation, phenotypic features (microcephaly, small triangular face, microstomia, micrognathia, microphtalmia, skin apendix on the cheek): Trisomy 18, Edwards, Macro, autopsy (72504) Dysplastic low set ears, micrognathia: Trisomy 18, [atlases.muni.cz]

  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia Acromelic frontonasal dysostosis Minicore myopathy, antenatal onset, with arthrogryposis Malignant hyperthermia Agnathia-microstomia-synotia [checkrare.com]

• Neonatal Seizures

  Seizures 1199 141 The Timing of Neonatal Brain Damage 1208 142 Thrombosis in the Development of Newborn Brain Damage 1216 143 Epidemiology of Adverse Cerebral Outcome 1228 144 Neuromuscular Disorders 1232 145 Ocular Malformations 1240 146 Retinopathy [books.google.com]

  Seizures 1 1 Benign Familial Neonatal-Infantile Seizures 2 Benign Hereditary Chorea 1 Benign Recurrent Intrahepatic Cholestasis 1 2 Benign Recurrent Intrahepatic Cholestasis 2 2 Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 2 Bent bone [preventiongenetics.com]

(This is an excellent overview of the multiple etiologies of microangiopathic hemolytic anemia that can assist in the initial workup.) Emergency management George, JN. “Clinical practice: Thrombotic thrombocytopenic purpura”. [clinicaladvisor.com]

Patients with vitamin B-12 deficiency need further workup to determine the level of intrinsic factor to exclude pernicious anemia. The Schilling test is not recommended during pregnancy, because of the radionuclide used in testing. [emedicine.medscape.com]

• Human Parvovirus B19

  Parvovirus B19 880 Congenital Syphilis and Tuberculosis 893 115 Toxoplasmosis in the Fetus and Newborn 898 116 Neonatal Bacterial and Fungal Infections 905 117 Neonatal Septic Shock 931 Enteroviruses and Respiratory Syncytial Virus 940 119 Vaccinations [books.google.com]

  Acardius, see the chapter Acardius Cardiac tumors (rhabdomyoma) Intrauterine infections: human parvovirus B19 may be the cause of as much as one third of all cases of hydrops fetalis. [atlases.muni.cz]

85 Pathology and Treatment of Liver Diseases 641 86 Neonatal CholestasisConjugated Hyperbilirubinemia 650 87 Surgical Treatment of Biliary Tract Malformations 659 88 Orofacial Malformations 664 89 Esophageal Atresia 675 90 Gastrointestinal Malformations [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment is directed at the cause (including stopping drugs, avoiding cold, treating underlying disorder). Corticosteroids remain the first-line treatment for idiopathic warm antibody hemolytic disease. Click here for Patient Education [msdmanuals.com]

What is the treatment for Sjögren-Larsson Syndrome? There is no curative treatment for SLS. [rarediseasesnetwork.org]

POOR PROGNOSIS: Two abnormalities associated with poorer prognosis. Aneuploidy of chromosomes 7 and 8 is associated with poor prognosis. Chromosome 16 has Cadherin and Catenin proteins, which are associated with poor prognosis when present. [kumc.edu]

Prognosis Zheng, XL, Kaufman, RM, Goodnough, LT, Sadler, JE. [clinicaladvisor.com]

The prognosis (outlook) after splenectomy is for a normal life and a normal life expectancy. [medicinenet.com]

Prognosis: prognosis is poor because of multiorgan involvement; Potter sequence is a common consequence of renal anomalies VACTERL has often similar features to sirenomely. [atlases.muni.cz]

Children and the elderly have a worse prognosis. [50] Epidemiology [ edit ] The country with the highest incidence of HUS is Argentina [51] [52] [53] [54] and it performs a key role in the research of this condition. [en.wikipedia.org]

Precise etiology is unknown. [atlases.muni.cz]

Laboratory tests that may be helpful to distinguish between SCC and other possible etiologies of pain include a white blood cell (WBC) count with differential and lactic dehydrogenase (LDH) determinations. [emedicine.medscape.com]

(This is an excellent overview of the multiple etiologies of microangiopathic hemolytic anemia that can assist in the initial workup.) Emergency management George, JN. “Clinical practice: Thrombotic thrombocytopenic purpura”. [clinicaladvisor.com]

Some etiologies: INFECTIOUS MONONUCLEOSIS: Shows follicular hyperplasia, indicating a T-Cell proliferation. Also see Atypical Lymphocytes, characteristic of Infectious Mono. [kumc.edu]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

EPIDEMIOLOGY: 75% of men have it by age 80. Some people say even higher. Especially common in African American men. [kumc.edu]

(This is a comprehensive review of epidemiology, pathophysiology, diagnosis and management of HUS.) Pennington, H. “Escherichia coli 0157”. Lancet. vol. 376. 2010. pp. 1428-35. (This is a comprehensive review of the epidemiology of HUS due to E. [clinicaladvisor.com]

Children and the elderly have a worse prognosis. [50] Epidemiology [ edit ] The country with the highest incidence of HUS is Argentina [51] [52] [53] [54] and it performs a key role in the research of this condition. [en.wikipedia.org]

699 92 Meconium Plug Syndrome 704 93 Hirschsprungs Disease 708 94 Gastroenteritis and Intractable Diarrhea 713 95 Rehydration after Diarrhea 719 96 Necrotizing Enterocolitis 724 97 Surgical Treatment of Necrotizing Enterocolitis 731 Overview 735 99 Pathophysiology [books.google.com]

(This is an excellent review of the pathophysiology, diagnosis, and treatment options in DIC.) Martin, JN, Magann, EF, Blake, PG. [clinicaladvisor.com]

Disorders of hemoglobin: genetics, pathophysiology, and clinical management. Cambridge, UK: Cambridge University Press, 2001: 941–957. 33. Harteveld CL, Voskamp A, Phylipsen M, et al. [nature.com]

"Pathophysiology of thrombotic thrombocytopenic purpura". Int J Hematol. 91 (1): 1–19. doi : 10.1007/s12185-009-0476-1. PMC 3159000. PMID 20058209. a b c d Zipfel, PF; Heinen, S; Skerka, C (2010). [en.wikipedia.org]

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. [rarediseasesnetwork.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Continue reading by clicking on Preventing Symptoms (or one of the other sections) below. Preventing Symptoms Preventing Symptoms From infancy to mid teens, I was plagued with hemolysis. [g6pddeficiency.org]

The science studying congenital anomalies their causes, pathogenesis, morfolology and prevention is called — teratology. [atlases.muni.cz]

TREATMENT: Transfusion therapy, plus iron chelators to prevent secondary iron overload from the therapy. [kumc.edu]

These include irradiating all blood products to prevent graft vs. host disease and ensuring the blood products are free of potentially harmful viruses. [primaryimmune.org]