34001 to 34100 most common queries

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

• Female Preponderance
• High Inter- and Intrafamiliar Variability of Phenotype
• Dysplastic Pulmonary Valve
• Cardiac Abnormalities
• Interstitial or Terminal Deletion of 18q
• Planovalgus
• Tapering Digits
• Atopic Disorders (Eczema, Food Allergy, Asthma)
• Protuberant Lower Lip
• Short Frenulum
• Downturned Corners of the Mouth
• Large, Dysmorphic Ears
• Malformed Earlobes
• Narrow Biparietal Diameter
• Prominent Abdominal Venous Pattern
• Dysphonia due to Muscle Weakness
• Rimmed Vacuoles with Basophilic Granular Material
• Angulated Atrophic Fibers
• EMG Shows Myotonic Changes
• Finger and Wrist Extensor Weakness
• Foot Extensor Weakness
• Dysphagia due to Muscle Weakness
• Parieto-Occipital Alopecia
• Overlapping Sutures
• Large Anterior Fontanels
• Fusion of Dentate Nuclei and Superior Cerebellar Peduncles
• Agenesis or Hypogenesis of the Cerebellar Vermis
• Head-Rolling Movements
• Trigeminal Anesthesia
• Levels of Vitamin B12 Elevated
• Interleukin 10 Increased
• Allelic to Oto-Spondylo-Megaepiphyseal Dysplasia
• Allelic Disorder to Stickler Syndrome Type 3
• Congenital Non-Progressive Non-Syndromic Sensorineural Hearing Loss
• Short Deep Set Toenails
• Horizontal Chin Cleft
• Nail Dystrophy with Overcurvature
• Numerous Large Keratohyaline Granules in Superficial Keratinocytes
• Mild Superficial Perivascular Lymphohistiocytic Infiltrates
• Mean Age at Onset: 12.5 Years
• Mutation in the TCAP Gene
• Cardiac Muscle Is Involved in a Subset of Patients
• Creatine Kinase Levels May Normalize with Disease Progression
• Absence of Telethonin Protein
• Centralized Myonuclei
• Necrotic and Regenerating Muscle Fibers
• Progression to Wheelchair in Fourth Decade
• Calf Hypertrophy
• Difficulty Walking Running
• Proximal and Distal Muscle Atrophy in Lower Limbs
• Severe Distal Muscle Weakness in Lower Limbs
• Straw-Like Fragile Hair
• Trichodystrophy
• Single Thumb Crease
• Thick Coarse Lips
• Hypoplastic Halluces
• Round Nasal Tip
• Low Nasal Root
• Onset of Choreoathetosis in Childhood or Young Adult
• Average Onset of Seizures 6 Months
• Exertion or Anxiety May Trigger Involuntary Movements
• Severe Limitations of Eye Movements
• Unilateral Hypertropia
• Unilateral Hypotropia
• Eyes Fixed in Extreme Abduction (Exotropia, Strabismus Fixus)
• Bilateral Ptosis
• Onset Usually at Age >40
• Most Commonly Affected Site
• Deformity or Enlargement of Bones
• Mixed Regions of Osteosclerosis and Osteolysis
• Deafness in 30-50% of Patients with Skull Involvement
• Hyperkalemic Metabolic Acidosis
• Neonatal Death Secondary to Pulmonary Insufficiency
• Multiple Renal Cortical Microcysts
• Tabular Atrophy
• Absence of Corticomedullary Differentiation
• Ultrasound Shows Enlarged Hyperechogenic Kidneys
• Renal Failure by Age 3
• Complete Vestibular Areflexia
• Improvement of Epimetaphyseal Changes with Age
• Mutation in the MMP13 Gene
• Metaphyseal Cupping
• Small Flattened Epiphyses
• Flaring of Iliac Wings
• Schmorl Nodule Appearance
• Mild Platyspondyly (Adults)
• Irregular Sclerotic Endplates (Adults)
• Normal Odontoid Process
• Pear-Shaped Vertebrae
• Adult Female Height 152 - 167 cm
• Adult Male Height 167-173cm
• Flared, Irregular Rib Ends
• Symptoms Remain Focal
• Age of Onset: 28-70 Years
• Dystonic Writer's Cramp
• Postural Hand Tremor
• Prominent Veins
• Partial Cutaneous Syndactyly
• Desmosterol Increased
• Gingival Nodules