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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