Sitemap | Symptoma 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
