37401 to 37500 most common queries

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

• Impaired Keratin Filament Insertion into Hemidesmosomes
• Blisters Originating in Basal Cells above Hemidesmosomes
• Small Hemorrhagic Blisters on Hands
• Skin Fragility with Non-Scarring Blistering
• Generalized Bruising Tendency
• May Have Seasonal Variance in Severity
• Onset of Blistering and Pigmentary Changes in Childhood
• Basal Cell Layer Contains Clumped Keratin Filaments
• Degeneration of Epidermal Basal Cells
• Punctate Palmoplantar Hyperkeratosis
• Discrete 2 to 5 mm Hyper and Hypopigmented Macules
• 'Mottled' Pigmentation of the Trunk and Proximal Extremities
• Acral Blistering
• Hip Joint Replacement Often Necessary
• Mutation in the COMP Gene
• Hip Osteoarthritis (Early Onset)
• Hip Movement Limited
• Mild Irregularity of Vertebral Endplates
• Final Adult Height 145 - 170 cm
• Frequency in Individuals Originating from Western Scotland Increased
• Tumors Leave Pitting Scars
• Spontaneous Resolution of Tumors within Months
• Tumors Are Locally Invasive
• Tumors Appear Most Often on Sun-Exposed Regions
• Disorder May Progress to Involve a Larger Body Area
• Swelling of the Affected Areas
• Variable Phenotype with Some Patients Having Very Mild Symptoms
• Mutation in the Erythropoeitin Receptor Gene
• Erythropoietin Low or Normal
• Death from Pneumonia
• Death by Age 6-7 Years
• Characteristic Face and Body by Age 2 Years
• Intervertebral Calcifications
• Poor or Absent Neurologic Development
• Caused by Mutations in the Exostosin 1 Gene
• Bilateral Overriding of Single Toes
• Exostoses in Juxtaepiphyseal Regions of the Long Bones
• Increased Risk of Chondrosarcoma
• Lesions Continue to Grow until Epiphyseal Plate Closure
• More Severe in Males than in Females
• Caused by Mutations in the Exostosin 2 Gene
• Madelung-Like Forearm Deformities
• Protuberances at Ends of Long Bones
• Risk of Chondrosarcoma Increased
• Short Stature in Less than 50%
• Absence of Premature Birth, Low Birthweight, and Exposure to Oxygen
• Caused by Mutation in the Frizzled Receptor 4 Gene
• Macular Ectopia
• Vitreoretinal Traction
• Fever Episodes Last from 3 to 10 Days
• Favorable Response to Antibodies against TNF-Alpha
• Colchicine Treatment Is Not Effective
• Caused by Mutation in the Pyrin Gene (MEFV 608107-0018)
• Transient Erysipelas-Like Erythematous Rash
• Prenatal History of Maternal Diabetes in 35% of Cases
• Short Metatarsals III, IV, V
• Shoulder Movement Limited
• Variable Humeri Hypoplasia
• Variable Fibular Involvement
• Aplasia or Hypoplasia of the Femur
• Bilateral, Often Asymmetric Involvement of Femora
• Vertical Ischial Axis
• Large Obturator Foramina
• Constricted Iliac Base
• Poorly Formed Pinnae
• 95% of Cases Are Sporadic
• Trauma or Surgery can be Foci of Ectopic Ossification
• Ossification Evident 2-8 Months Following Swelling
• Onset at Mean Age of 5 Years
• Progressive Ectopic Ossification
• Painful Swelling in Fasciae
• Progressive Ectopic Ossification of Tendons and Ligaments
• Restricted Arm Mobility
• Painful Swellings in Tendons
• Small Cervical Vertebral Bodies
• Progressive Cervical Vertebral Spine Fusion
• Flat, Broad Mandibular Condyles
• Trichodiscomas - Tumor of the Hair Disc
• Alveolar Bone Normal
• Dilatation of the Aortic Arch
• Dry, Thick Skin
• Poor Muscle Bulk
• Fleshy Nose
• Long Lobulated Ears
• Birthweight Greater than 90th Percentile
• Mutation in the Kinesin Family Member 21A Gene
• Inability to Raise Eyes above Midline
• Bilateral Infraducted Eye Position - Downward Gaze
• Majority of Affected Individuals Are Female - 85%
• Hypoplastic or Absent Fifth Finger and Toenails
• Hypoplastic to Absent Terminal Phalanges (Especially 5th Toe)
• Microureter
• Unusual Fears
• Agenesis of Anterior Commissure
• Moderate to Severe Hypotonia
• Mutations in the LCAT Gene
• Alpha-Lecithin:Cholesterol Acyltransferase Activity Decreased
• Plasma VLDL and LDL Increased
• Wide Columella
• Normal Motor Development