35401 to 35500 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Majority of Children Die at Age 6 Months to 5 Years
• Severe Autoimmune Cytopenia
• Panhypogammaglobulinemia or Agammaglobulinemia
• Reduced CD4+ Count and Proportionally Increased CD8+ Count
• Normal Number of T and B Lymphocytes
• Susceptible to Vaccine-Induced Polio
• Frequent Protozoan, Bacterial, Viral, and Fungal Infections
• Absence of Humoral and Cellular Immune Response to Foreign Antigens
• Severe Colitis
• Variable Degree of Villous Atrophy
• Pseudosclerosing Cholangitis
• Progressive Liver Disease
• Enteric Salmonellosis
• Onset Early in First Decade
• Contractures of the Lower Limbs
• Posterior Column Sensory Loss
• Metabolic Decompensation Precipitated by Illness
• Episodic Metabolic Acidosis
• Not Responsive to Biotin Treatment
• May Be Present in Asymptomatic Adults
• Possibly Episodes of Severe Metabolic Decompensation in Infancy
• 3-Methylcrotonyl-CoA Carboxylase Activity Decreased (<2%)
• Acute Ketonuria
• Acute Hyperammonemia
• Secondary Decrease of Plasma Free Carnitine
• Chronic Renal Excretion of 3-Hydroxyisovaleric Acid
• Chronic Urinary Excretion of 3-Methylcrotonylglycine
• Acute Macro- and Microvesicular Steatosis
• Neurologic Sequelae Not Always Present
• Other Half Show Head Circumference More Retarded than Height
• Mutation in the ATR Gene
• Sister Chromatid Exchange Increased
• Cone-Shaped Epiphyses of Phalanges
• Ivory Epiphyses (phalanges)
• Relatively Large Eyes
• Absence of Earlobe
• Low-Set, Malformed Ears
• Average Birth Weight 1540 g
• Arachnoidal Cysts
• Death Often Secondary to Infectious Disease
• Infants Are Stillborn or Die before Age 1
• Relatively Large Feet
• Relatively Large Hands
• Horizontal Iliac Wings
• Steep Skull Base
• Large Fleshy Nose
• Focal Medullary Hypoplasia
• Thin Diaphyses of Long Bones
• Delayed and Dysharmonic Bone Age
• Severe Osteoporosis
• Steep Narrow Forehead
• V-Pattern Esotropia
• Predisposition to Neoplasia
• Life-Threatening Infections
• IgA IgG IgM Decreased
• High Frequency of Chromosome Breaks in Lymphocytes
• SCE Normal in Heterozygotes
• High Rate of Sister Chromatid Exchange
• Impaired Lymphocyte Proliferation in Response to Malignancy
• Immunoglobulin Deficiency (IgA, IgG, IgM)
• Hypersensitivity to Chemotherapy
• Average Adult Female Height 144 cm
• Average Adult Male Height 151cm
• Dimples
• Short Dumbbell-Shaped Humeri
• Bowing of Radius
• Bowed Limbs - Lower Greater than Upper Limbs
• Short Wide Iliac Wings
• Anteriorly Cupped Ribs
• Wavy Short Ribs
• No Pubic Hair
• Short Toes - 2nd-5th
• Tarsal Hypoplasia
• Thin Eyelashes
• Unpigmented Areola
• Terminal Transverse Limb Reduction
• Anomalous Ribs
• Short Metatarsals - 4th and 5th
• Camptodactyly (2nd - 5th Fingers)
• Hypoplastic 5th Lumbar Vertebrae
• Frontal and Ethmoidal Sinuses Absent
• Small Downturned Mouth
• Downslanting Ribs
• Mortality Approximately 20% in First 2 Years
• Orange Peel Skin
• Phosphomannomutase Deficiency in Leukocytes Fibroblasts or Liver
• Copper Iron Zinc Decreased
• Factors IX - XI - XII Decreased
• GlcNAc Transferase II Deficiency in Fibroblasts and Mononuclear Cells
• Soft Tissue Tumors of the Tongue
• Rhythmic Tongue Movements
• 'Tilted' Ears
• Occipital Myelomeningocele
• Occipital Meningocele
• See also Childhood-Onset Form
• Asymptomatic Younger Patients Show Characteristic Basal Ganglia Calcifications
• Phosphorus Normal
• Calcification of Small Brain Vessels
• CT Scan Shows Dense Calcifications in the Basal Ganglia
• Urine 7α-Hydroxylated Bile Alcohols Increased