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35801 to 35900 most common queries

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

Postnatal Onset Growth Deficiency Short Broad Distal Phalanges Flattened Epiphyses Rhizomelic Limb Shortening (Especially Arms) Sagittal Suture Craniosynostosis Dental Fusion Malformation of the Hepatic Ductal Plate Brachydactyly - 2nd - 5th Toes Bulbous Thumbs Key Hole-Like Iris-Retina-Choroid Coloboma Nasal Obstruction Leading to Mouth Breathing Patchy Sclerosis of Finger Phalanges Metacarpal Sclerosis Humeri Radii Ulnae Bowing Club-Shaped Distal Femur Dense Diaphyses Obliteration of Paranasal Sinuses and Mastoid Alveolar Process - Broad Alveolar Margins Mild Anterior Rib Widening Absent Carpals Metacarpals and Phalanges Short, Curved Ulna Absent or Hypoplastic Radii Craniosynostosis (Coronal, Metopic, Lambdoidal) Low-Set Posteriorly Rotated Ears Flattening of Forehead Hypoplasia of Palmar Creases Thin Fingers Craniosynostosis (Sagittal Metopic Lambdoid) Neutral Palpebral Fissures Short Columella Long, Hypoplastic Philtrum Absent REM Sleep No Response to Phenobarbital Death in Infancy Secondary to Kernicterus Liver Histology Normal Absence of Hepatic UDP-Glucuronyltransferase Midline Nasal Cleavage Broad, Low Nasal Bridge Hypoplastic, Notched Nares Absent or Malformed Lacrimal Ducts Middle Ear Malformations Extension of Hair Growth on Temples to Lateral Eyebrow Umbilical Anomaly Renal Agenesis or Hypoplasia Majority of Patients Are Responsive to Pyridoxine Mutations in the CTH Gene Hepatic Gamma Cystathionase Deficiency Delta-F508 Present in 70% of Alleles Pulmonary Blebs Chronic Bronchopulmonary Infection High Newborn Levels of Immunoreactive Trypsinogen Abnormal Nasal Potential Differences Rarely Hyponatremic Dehydration Sweat Sodium and Chloride High Meconium Ileus in Neonates (10-15%) Pancreatic Insufficiency in 80% Adult Non-Nephropathic Cystinosis Juvenile or Adolescent Nephropathic 1 - Infantile Nephropathic Cystinosis Mutations in the Cystinosin Gene No Retinopathy Mild Photophobia Conjunctival Crystals No Renal Disease Recurrent Episodes of Dehydration Presentation in First Year of Life Mutation in the CTNS Gene Hypophonic Speech Light Skin Pigmentation (Compared with Unaffected Sibs) Kypokalemia Short Stature in First Year of Life Neurologic Deterioration in Long-Term Survivors Onset Usually at Age 12-15 Years Mutations in the Cystinosis Gene White Cell Cystine Increased Subset of Patients Have French Canadian Leigh Syndrome (220111) Subset of Patients Have Leigh Syndrome Possibly Death in Infancy Symptom Onset Ranges from Infancy to Adulthood Marked Clinical Heterogeneity Caused by Mutation in the Mitochondrial tRNA Serine 1 Gene Mutation in the Cytochrome C Oxidase Subunit X Gene Caused by Mutation in the Surfeit 1 Gene Anemia (associated with Mutation in the COX10 Gene) Increased Lipid Droplets and Abnormal Mitochondria Muscle Biopsy Shows Decrease or Absence of Cytochrome C Oxidase Liver Biopsy Shows Increased Lipid Droplets and Abnormal Mitochondria Cytochrome C Oxidase Decreased (Biopsy) Pyramidal Syndrome Death Usually by Age 2 Years Liver Biopsy Shows Increased Lipid Droplets Tall, Broad Forehead Mutation in the KCNE1 Gene Cysts in Patella and Ends of Long Bones Bone Cysts Filled with Necrotic Fatty Material Neuropathologic Examination Shows Severe Demyelination MRI Shows Leukoencephalopathy Mild Memory Loss Progressive Presenile Dementia (Onset at about Age 30 Years) Skin Nodules - Fingers Elbows Nose Ears