27001 to 27100 most common queries

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

• Small Odontoid
• Cerebral Arterial Hemorrhage
• Focal Dystonia Becomes Segmental or Generalized Dystonia
• Onset in Teenage Years
• Progressive Dystonia
• Onset of Seizures in Later Childhood
• Onset of Ataxia in Early Childhood
• Mutation in the Prickle-Like Protein 1 Gene
• Cognition is Spared
• Progressive Action Tremor
• Disdiadochokinesia
• Progressive Myoclonic Seizures
• Oculogyric Eye Movements
• Initial Development May Appear Normal
• Small Caudate
• Absence or Atrophy of the Putamen
• Diffuse Hypomyelination of the Brain White Matter
• Increased Risk of Breast Cancer in Women
• Apical Cartilage Deformity
• Usually Congenital Hyperkeratosis, Possibly Later Onset
• Mutation in the ATP2A2 Gene
• No Acantholysis or Dyskeratosis
• Prominent Granular Cell Layer
• Punctate Keratoses on Palms and Soles
• Multiple Flat Skin-Colored Warty Papules
• Severity of Phenotype Negatively Correlates with S-Ado/SAICAR Ratio
• Adenylosuccinase Deficiency
• S-Ado/SAICAr Ratio Decreased
• Increased Succinylaminoimidazole Carboxamide Ribotide (SAlCAr)
• Urine and Cerebrospinal Fluid Succinyladenosine Increased
• Poor Language and Speech Development
• See Also Pseudohypoparathyroidism Type 1b and 1c
• See also Pseudohypoparathyroidism
• One of the Most Common Autoimmune Diseases
• Peribulbar Lymphocytic Infiltrate (on Scalp Biopsy)
• Alopecia Universalis - Entire Loss of All Hair on Body
• Trachyonychia - Rough Surfaced Nails
• Caused by Mutation in the Enamelin Gene
• Incisal Edge or Occlusal Surface Usually Not Involved
• Enamel Has Horizontal Row of Pits or Linear Depressions
• See also X-Linked Dominant Form
• More Common in Women (90%)
• Associated with Increased Frequency of Autoimmune Diseases
• Laryngeal Edema Can Result in Asphyxiation
• Highly Variable Frequency and Severity of Attacks
• Symptoms Typically Begin in Childhood
• Mutation in the C1 Esterase Inhibitor Gene
• Impaired Distal Sensation of All Modalities
• Distal Vasculitic Peripheral Axonal Neuropathy
• Mutation in the Antithrombin III Gene
• Mutation in the TGFB3 Gene
• Ventricular Arrhythmia (PVC, NSVT, and VT)
• Often Associated with Klippel-Feil Anomaly
• Often Associated with Chiari Type 1 Malformation
• Base of the Skull Is Flattened on the Cervical Spine
• Occipitalization of the Atlas
• Hypoplasia of Cervical Paravertebral Muscles
• Allelic to Acrocapitofemoral Dysplasia
• Mutation in the TFAP2A Gene
• Caused by Mutation in the Eyes Absent 1 Gene (EYA1)
• Aplasia or Stenosis of Lacrimal Duct
• Hypoplastic Pinnae
• Therapy-Induced Dyskinesias
• Oculogyric Dystonic Spasms
• Mutation in the FH Gene
• Optic Pallor
• Angulation of the Frontal Horns
• Ventricular Enlargement
• Most Patients Do Not Achieve Independent Sitting or Walking
• Allelic to Senior Loken Syndrome 4
• Allelic to Hand Osteoarthritis
• Allelic to MATN-3 Related Spondyloepimetaphyseal Dysplasia
• Trinucleotide Repeat Expansion in the TBP Gene
• Velocity of Larger Saccades Increased
• Allelic to Dyggve-Melchior-Clausen Disease
• Sagittal Vertebral Cleft
• Inheritance of the Mutation on the Maternal Allele (Imprinting)
• Mutation in the GNAS1 Gene
• Erythrocyte Gs Activity Normal
• Erythrocyte Gs Activity Reduced
• Normal Urinary Cyclic AMP Response to PTH Administration
• No Hormone Resistance
• 1.35-Mb Duplication of 1q21
• Hypoplasia of Corpus Callosum and Cerebellar Vermis
• Smooth Upper Vermilion Border
• Widened Inner Canthal Distance
• Receding Short Forehead
• Valvular Defects
• Long Straight Eyelashes
• Usually More Severe Phenotype in Autosomal Recessive Cases
• Symptoms May be Exacerbated by Pregnancy or Trauma
• Onset of Symptoms in Second or Third Decade
• Retroflexion of Odontoid Process
• Decreased Length of Clivis
• Slope of Tentorium Increased
• Decreased Height of Supraocciput
• Compression of Cerebellar Cisterns
• Volume of Posterior Cranial Fossa Decreased
• Floaters, Flashing Lights, Visual Field Cuts
• Non-Specific Ocular Disturbances