34901 to 35000 most common queries

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

• Absent Dorsal Skin Creases Over Affected Joints
• Syndactyly (2nd-5th Toes)
• Proximal Symphalangism - 2nd-5th Toes
• Fifth Toe Clinodactyly
• Proximal Interphalangeal Joint Space Narrowed
• Hypoplasia of the Hypothenar Eminence
• Cutaneous Syndactyly
• Proximal Symphalangism (2nd-5th Fingers)
• Mutation in the Homolog of the Mouse Noggin Gene
• Fifth Metacarpal Hypoplasia
• Distal Interphalangeal Joint Synostoses
• Proximal Interphalangeal Joint Synostoses
• Mutation in the Homeobox D13 Gene
• 6 Metatarsals
• Triangular Distal Phalanges
• Middle Phalangeal Hypoplasia 2nd-5th Toe
• Preaxial Polydactyly
• Syndactyly of the 4th and 5th Toe
• Y-Shaped Metacarpals
• Clino-Camptodactyly 5th Finger
• Partial or Complete Duplication of Digit in Syndactylous Web
• Fused Fingernails
• Partial Cutaneous Syndactyly of 2nd and 3rd Toe
• Normal Feet
• Pre- or Postaxial Polydactyly
• Separate Hypoplastic Thumb
• Separate Triphalangeal Thumb
• 1-5 Finger Complete Cutaneous Syndactyly
• Cup Shaped Hand
• 2nd/3rd or 4th/5th Toe Syndactyly
• Partial Soft Tissue Syndactyly
• Variable Cutaneous Syndactyly
• Absent Distal Flexion Creases of Fingers
• Absence of Skin Creases Over Distal Interphalangeal Joints
• Absence of Skin Creases Over Proximal Interphalangeal Joints
• Absent or Hypoplastic Distal Phalanges
• Cutaneous Syndactyly (2, 3, 4)
• Fusion of Proximal Interphalangeal Joints
• Limited Forearm Pronation or Supination
• Hypoplastic Spinal Processes
• Hemicylindrical Nose
• Short Philtrum
• Anteriorly Positioned Shoulders
• Triquetro-Pisiform Fusion
• 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
• 'French Telephone Receiver Femurs'
• Marked Shortness and Bowing of Long Bones
• Severe Growth Deficiency in Survivors
• Profound Mental Retardation and Hypotonia in Survivors
• Temporal Lobe Heterotopias
• Death in Majority of Infants soon after Birth
• Flared and Irregular Metaphyses
• Straight Femurs
• Foramen Magnum Stenosis
• Severe Cloverleaf Skull - 'Kleeblattschaedel'
• Wide-Cupped Costochondral Junctions
• Flared Iliac Crest
• 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)
• Abnormality of the Middle Ear
• Abnormally Folded Pinna
• Short Stature (20% of Adults)
• Schizophrenia (22% of Adults)
• Mild to Moderate Learning Difficulties