35101 to 35200 most common queries

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

• Perinatal Lethal
• Telescoped Femur
• Broad Crumpled Long Bones
• Flattened Acetabulae and Iliac Wings
• Absent Calvarial Mineralization
• Often Identified in Neonatal Period
• Femoral Bowing Present at Birth - Straightening with time
• Biconcave, Flattened Vertebrae
• Mild-Moderate Skeletal Deformity
• Normal Greyish Sclerae
• Short Stature (Often <5th Percentile)
• Diaphyseal Bowing (Radius, Ulna, Tibia, Fibula)
• Cemento Osseous Lesions (Maxilla and Mandible)
• Sclerotic Mastoids (31%)
• Sclerotic Cranial Base
• Increased Trabecular Thickness Seen on Iliac Bone Biopsy
• Broad Medial and Lateral Clavicles
• Long Straight Clavicles
• Transitional Facial Palsy
• 20-40% of Patients Are Asymptomatic
• Caused by Mutation in the Chloride Channel 7 Gene
• Endobones
• Pronounced Skull Base Sclerosis
• Facial Palsy due to Cranial Nerve VII Compression
• Ankylosis of Primary Molars
• Caused by Mutations in the Keratin 17 Gene
• Mutations in the Keratin 6B Gene
• Folliculitis - Back, Axilla, Pubic Region
• No Oral Leukoplakia
• Mutation in the Valosin Containing Protein Gene
• Inclusion Body Myopathy
• Limb Weakness and Atrophy
• Shoulder Weakness and Atrophy
• Frontal and Temporal Cortical Atrophy (MRI)
• Inability to Raise One or Both Eyes above Midline
• Eyes Fixed in Hypotrophic Eye Position
• Unilateral or Bilateral, Non-Progressive, Restrictive Ophthalmoplegia
• Ptosis (Unilateral, Bilateral or Absent)
• See Also Lethal Neonatal and Adult Forms
• Precipitated by Febrile Illness and Fasting
• Long Chain Acylcarnitine Increased
• Plasma and Tissue Total and Free Carnitine Reduced
• Palmitate Oxidation Decreased
• Decreased Levels of CPT2 Protein
• Carnitine Palmitoyltransferase II Activity Decreased
• Onset of Hearing Loss in Second Decade
• Benign Neonatal Familial Convulsions
• Comprises Several Subtypes
• Susceptibility Conferred by 9-SNP Haplotype in Malic Enzyme 2
• 3-4 Hz Spike and Multispike
• Generalized Bilateral Synchronous Symmetrical Discharge
• Generalized Recurrent Seizures
• Age at Onset of Mild Phenotype: 11-18 Months
• Severe Phenotype Onset Neonate
• Two Different Phenotypes Exist - Severe and Mild
• Urine L-2-Hydroxyglutaric Acid Increased
• Urine Plasma and Cerebrospinal Fluid D-2-Hydroxyglutaric Acid Elevated
• Enlarged Lateral Ventricles (Occipital > Frontal)
• Delayed Gyration
• Neonatal or Early-Infantile-Onset Encephalopathy
• Distal Myopathy with Rimmed Vacuoles
• Severe Incapacitation in 10-20 Years
• Possible Proximal Muscle Weakness Later in the Disease
• See for General Information on Alzheimer Disease
• Accounts for <2% of Patients with Alzheimer's Disease
• Early Onset between 35-60 Years
• Mutation in the Presenilin 2 Gene
• Severe Amyloid Angiopathy
• Neurofibrillary Tangles and Neuritic Senile Plaques - Rare
• Responsive to Treatment
• May Have Increased Serum Parathyroid Hormone
• 1-25-Dihydroxyvitamin D3 Increased
• Curvatures of the Femur, Tibia, Fibula
• 'Bulging' Epiphyses
• Thin Cortex
• Mutation in the BSCL2 Gene
• Mutation in the GARS Gene
• Possibly Hammertoes
• Pes Planus in Some
• Pes Cavus in Some
• Mildly Reduced Vibratory Sense in 10% of Patients
• Motor Symptoms Develop Later - About 5 Years into Illness
• Subtle Personality and Behavioral Changes Are Presenting Signs
• Average Duration of Illness: 8 Years
• Average Age of Onset 57 Years
• Mutation in the CHMP2B Gene
• Global Reduction in Cerebral Blood Flow on PET Scan
• Cortical Neuronal Loss
• Mutation in the RAB7 Gene
• Dystrophic Toenail
• Ulcers Often Lead to Infection and Amputation
• Distal Ulcers due to Sensory Neuropathy
• Distal Osteomyelitis or Necrosis due to Sensory Neuropathy
• Marked Distal Sensory Impairment
• Normal Sialophorin Gene
• Small and Large Vessel Vasculitis
• CD43 Defectively Expressed on Surface of Blood Cells
• IgG Normal
• CD8+ Cells Subset Decreased
• CD4+ Cell Subset Decreased