35001 to 35100 most common queries

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

• Accessory Thyroid Tissue
• Thin Fine Hair Described in Few Individuals
• Normal Ability to Tolerate Heat
• Mutations in the MSX1 Gene
• Nail Changes Improve with Age
• Toenails Often More Severely Affected
• Thin Small Friable Nails
• Normal Sweat Glands
• Partial to Total Absence of Permanent Teeth
• Primary Teeth Small to Normal
• Favorable Response to Alcohol in About 50%
• Penetrance Is Usually Complete by Age 65 Years
• Age at Onset Ranges from 50 to 70 Years
• Susceptibility due to Mutation in the DRD3 Gene
• Fine, Rapid Hand Tremor of 4-12 Hz
• Postural Tremor
• Hair Tends to Straighten by 2nd-3rd Decade
• Kinky Hair
• Poorly Pneumatized Mastoids
• Obliteration of Calvarial Diploe
• Mild to Moderate Bone Density Increase
• Teeth Pits
• Small Widely Spaced Teeth
• Thin Enamel
• Mutations in the TRPS1 Gene
• Deep Voice
• Eburnated Epiphyses of Distal Phalanges (2, 4, 5)
• Cone-Shaped Epiphyses of Middle and Proximal Phalanges
• Swelling of Proximal Interphalangeal Joints
• Thin Eyebrows
• Large Ears
• Horizontal Groove on Chin
• Long Philtrum
• Muscular Hypotonia in Infancy
• Cone-Shaped Epiphyses of Middle Phalanges
• Absence of Exostoses
• Mild Synophrys
• Skin Tag of Preauricular Area of Ear
• Recurrence Risk with Parental Translocation Increased
• Meiotic Origin >95% Maternal - Mostly Meiosis I
• Translocation 21 - 3.3%
• Full Trisomy 21 94%
• Folded Helix
• Hypotonia and Poor Moro Reflex
• Frequent New Mutations and-or Gonadal Mosaicism in TSC2
• Frequent New Mutations (86%) and/or Gonadal Mosaicism in TSC1
• Rare Lymphangiomyomatosis
• Multiple Bilateral Renal Angiomyolipoma
• Pitted Dental Enamel
• X-Ray or CT - Intracranial Calcification
• Amelioration with Age
• Pili Trianguli and Pili Canaliculi
• Blond Silver Hair Color
• Normal Neonatal Hair
• Pili Trianguli
• Short Proximal Phalanges of Finger
• Majority of Cases Have Bilateral Involvement
• Onset at Age 5 Years
• Premature Closure of the Capital Femoral Epiphyses
• Arthralgias (Knees and Hips)
• Ecchondromata - Cartilaginous Tumor Projecting under Periosteum
• Diagnosis Made if 3 out of 7 Defects Are Present
• Estimated Frequency 1-6 Cases/10,000 Live Births
• More Frequent in Infants of Diabetic Mothers
• Anomaly of the Sternum
• Overlap with DiGeorge Syndrome
• Internal Carotid Artery Abnormalities
• Aberrant Left Subclavian Artery
• Congenital Abnormality in 85%
• Primary Unilateral Pulmonary Dysgenesis
• Monosomy for 22q11
• Slender Hands and Digits
• Frequent Infections - Rare T Lymphocyte Dysfunction
• Pharyngeal Hypotonia
• Small, Open Mouth
• Prominent Tubular Nose
• Nasopharyngeal Lymphoid Tissue Decreased
• Square Nasal Root
• Minor Auricular Anomalies
• Psychotic Illness
• Blunt or Inappropriate Affect
• Rare Neonatal Hypocalcemia
• Mutation in the KCNQ1 Gene
• Onset within First 2 Years
• Cerebellar Origin Most Likely
• Possibly Loss of Balance
• Dizziness May Occur
• Poor or Absent Smooth Pursuit
• Poor Vestibuloocular Reflex
• Acetazolamide May Benefit Attacks of Vertigo
• No Hearing Loss
• Bilateral Progressive Vestibulopathy
• Bilateral Progressive Vestibulopathy (Onset: 4th-5th Decade)
• Episodic Vertigo
• Parathyroid Hormone Normal
• VHL Type 2C - Pheochromocytoma Only
• VHL Type 2B: Renal Carcinoma and Pheochromocytoma
• VHL Type 2A Hemangioblastoma and Pheochromocytoma
• VHL Type 1 - Renal Carcinoma and Hemangioblastoma
• Sporadic Cerebellar Hemangioblastoma