28901 to 29000 most common queries

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

• Patients Are Often of Mediterranean Origin
• Mutation in the ETHE1 Gene
• C4 and C5 Acylcarnitine Esters Increased
• Methylsuccinic Aciduria
• Ethylmalonic Aciduria
• Pyramidal Symptoms
• High Incidence of Diabetes Mellitus Noted in OPLL Patients
• Four Types of OPLL - Segmental Continuous Mixed Other
• Common in Japan and Asian Populations
• Ectopic Ossification of Posterior Longitudinal Spinal Ligament
• Reduced Penetrance (Approximately 87%)
• Neurologic Signs Last Hours to Days
• Headaches Last Hours to Days
• Frequency and Duration of Episodes Highly Variable
• Onset at Age 6-30 Years
• Cerebellar Signs during Episodes
• Ictal EEG Shows Diffuse Slow Delta and Theta Activity
• Diffuse Brain Swelling Occurs during Coma
• Hemihypoasthesia
• Variable Phenotype within Families
• Temporomandibular Joint Abnormalities
• Small Mandibular Coronoid Processes
• Asymmetric Mandible
• Articulation Difficulties
• Abnormal Palate (63%)
• Glossoptosis
• Microstomia (52%)
• Ear Constriction (97%)
• Pre and Post Auricular Skin or Cartilaginous Tags
• Cupped Pinna
• Lobule May Be Separate from the Rest of the External Ear
• Cleft at the Junction of Lobule and Helix
• Auricular Clefts
• Prominent Cheeks
• Insulin Dependent Late Onset Diabetes Mellitus
• Mutation in the Barttin Gene
• Urine Prostaglandin E
• Tubulointerstitial Fibrosis (Renal Biopsy)
• Ultrasound Shows Hyperechoic Kidneys
• Stimulation of the Renin-Angiotensin-Aldosterone Axis
• Narrowed Distal Phalanges
• Proximal and Middle Phalanges
• Long Cranium
• Skeletal Maturation Accelerated
• Underweight for Length
• Thick Clavicles
• Mild Involvement of Face and Arms
• Severe Involvement of Legs
• Delayed Epiphyseal Maturation
• Short Ilium
• Flat Acetabula
• Mild Interpedicular Narrowing
• Central Vertebral Hypoplasia
• Infantile Platyspondyly
• Severe Lumbar Lordosis
• Mild Splenomegaly
• Mild Hepatomegaly
• Narrow, Bell-Shaped Thorax
• Onset at Age 2-12 Months
• Mutations in the MPI Gene
• Fragile Scalp Hair
• Prominent Palmar Flexion Creases
• Trident Configuration of Acetabular Roof
• Wafer-Thin Platyspondyly
• Generalized Myelin Loss
• Severe Diffuse Neuronal Loss
• Small Cerebellum
• Progressive CNS Degeneration
• Often Presents with Cranial or Cervical Involvement
• Allelic Disorder Causes Nephronophthisis 1
• Phenotypically Mild Form of Joubert Syndrome
• Caused by Deletion in the Nephrocystin Gene
• Tubulointerstitial Medullary Cystic Kidney Disease
• Long Thickened Cerebellar Peduncles
• Molar Tooth Sign on MRI
• Mild Gross Motor Delay
• Head 'Tilt' in Infancy
• Mild Hypotonia
• Symmetrical Oval Defects in the Parietal Bone
• Epiphyses of the Fingers Enlarged
• Megaepiphyses
• Distal Ulnar Epiphyseal Calcifications
• Upper Limb Mesomelic Shortening
• Pubic Punctate Calcification
• Rotated Ears
• Cytogenetic Breakpoints Range from 10q23.3-q26.2
• Affectionate Behavior
• Variable Developmental Delay
• Variable Frequency and Duration of Episodes
• Onset in First 2 Decades
• Most Become Wheelchair-Bound Late in Life
• Mean Age at Onset of Proximal Muscle Weakness: 31 Years
• Mean Age at Onset of Bone Fractures 24 Years
• Soft, Thin Skin
• Creatine Kinase Normal or Mildly Increased
• Alkaline Phosphatase Normal or Mildly Increased
• Coarse, Sclerotic Trabeculae
• Patchy Sclerotic Changes in Long Bones
• Muscle Biopsy Shows Nonspecific Myopathic Changes
• Distal Limb Muscle Weakness Occurs Later