29601 to 29700 most common queries

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

• Scapholunate Fusion
• Large Triquetrum
• Mutations in the NOG Gene
• Progressive Fusion 2nd-5th PIP Joints
• Stiff 5th Proximal Interphalangeal Joint - Birth
• Humeroradial Fusion
• More Frequent in Females
• Onset Usually in Early Childhood
• Usually Venules but Can Also Be Capillaries and Arterioles
• Dilatation of the Small Vessels in the Upper Dermis
• No Systemic Vascular Lesions
• No Hemorrhage
• Variable Number of Lesions (1 to Greater than 10)
• Variable Size (1*1 to 6*4 cm)
• Lesions Become Soft and Paler With Age
• Small Red Lesion May Increase in Size with Age
• Mutation in the Endoglin Gene
• Fingerpad Telangiectases
• GI Hemorrhage - Onset Usually in 5th - 6th Decade
• Plantar Contractures Become Apparent with Onset of Ambulation
• Marked Shortness and Bowing of Long Bones
• Cloverleaf Skull - Rarely
• Severe Growth Deficiency in Survivors
• Profound Mental Retardation and Hypotonia in Survivors
• Temporal Lobe Heterotopias
• Death in Majority of Infants soon after Birth
• Severe Cloverleaf Skull - 'Kleeblattschaedel'
• Wide-Cupped Costochondral Junctions
• Small Rigid Chest
• Mild to Moderate Bruisability
• Increased Plasma Thrombopoietin (TPO)
• Total White Blood Count Increased
• Megakaryocyte Colony Forming Units Increased
• Normal Platelet Size
• Thrombocytopenia (Mean: 42.7*10^9/l)
• Micromegakaryocytes Increased
• Giant Platelet α-Granules (Peripheral Blood)
• Mild Hemorrhagic Diathesis
• Chromosome 11q23.3 Deletion
• 22q11.2 Deletion
• Hernia in 22% of Adults
• Severe Acne
• Deletion of 22q11.2 in 85-90% of DGS Patients
• T Cell Deficiency
• Immune Defect due to a T Cell Deficit
• Blunted Nose
• Hearing Deficits (28% of Adults)
• Short Stature (20% of Adults)
• Schizophrenia (22% of Adults)
• Mild to Moderate Learning Difficulties
• Hypothyroidism (20% of Adults)
• 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
• Obliteration of Calvarial Diploe
• Mild to Moderate Bone Density Increase
• Thin Enamel
• Mutations in the TRPS1 Gene
• Eburnated Epiphyses of Distal Phalanges (2, 4, 5)
• Cone-Shaped Epiphyses of Middle and Proximal Phalanges
• Swelling of Proximal Interphalangeal Joints
• Thin Eyebrows
• Muscular Hypotonia in Infancy
• Cone-Shaped Epiphyses of Middle Phalanges
• Absence of Exostoses
• Skin Tag of Preauricular Area of Ear
• Recurrence Risk with Parental Translocation Increased
• Meiotic Origin >95% Maternal - Mostly Meiosis I
• Translocation 21 - 3.3%
• Mosaic Trisomy 21 (2-4%)
• 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