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34901 to 35000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Hypothyroidism (20% of Adults)