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37401 to 37500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Phenotypic Overlap with Denys Drash Syndrome