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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)