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Intracellular Redox Disturbance Lysine Increased Alanine Increased Pyruvate Carboxylase Activity Decreased Poor Myelination Cystic Lesions Consistent with Leigh Syndrome Mutations in the PKRL Gene Erythrocyte Osmotic Fragility Increased Severity of Anemia Can Range from Mild to Life Threatening Erythrocyte Pyruvate Kinase Activity Decreased Frequency of Infections Decreases after 3 Years of Age Lewis A and B Negative Cells Red Blood Cells Lack H-Antigen Bombay Blood Phenotype Neutrophilia - Both Basal and during Infections Absence of Pus Formation at Site of Infection Absent Sialyl-Lewis X Ligand Expression Neutrophil Adherence Mildly Decreased Neutrophil Motility Markedly Reduced Angiokeratomas of Soles Telangiectasia (Soles) Gingival Biopsy Shows Hyperkeratosis Acanthosis Papillomatosis Gingival Fibromatosis Fibroepithelial Hyperplasia of Labia Minora Death in the First Few Weeks of Life Absent Bone Marrow Myeloid Elements Absent Humoral Immunity Lymphoid Hypoplasia Pleocytosis in Cerebrospinal Fluid Especially Lymphocytes Reduced T Cell Cytotoxicity NK Cell Cytotoxicity Decreased Activated HLA DR+ T Cells in Peripheral Blood Midline Occipital Bone Defect Subependymal Heterotopic Nodules Insulin Receptor Binding Decreased Sparse Fine Hair Ridged Fingernails Bilateral Subretinal Masses Mutation in the ESCO2 Gene Silvery Blonde Scalp Hair Nuclear Morphology Abnormal Reduction in Number of Toes Absence or Reduction in Length of Femur Tibia or Fibula Absence or Reduction in Length of Humerus, Radius or Ulna Tetraphocomelia Hypomelia Narrow Naris Absent Earlobe Rudimentary Gallbladder Postnatal Growth Deficiency Birth Weight 1.5 - 2.2 kg Birth Length Less than 40 cm Labia Minora Enlarged Epiglottis Absent or Abnormal Short Round Larynx Hypoplastic Phalanges (First Digit) Lower Central Incisors Absent Long Palpebral Fissures Flat Facial Profile Short Stature - Postnatal Onset Atrophic Nails Poikiloderma Erythematous Skin Lesions In Infancy Forearm Reduction Defects Multiple Crown Malformations Small Saddle Nose Juvenile Zonular Cataracts Silvery Blond Hair Absence of Radius and Ulna Absent Lobules Hypoplastic First Metacarpals Advanced Ossification of Carpal Bones Dumbbell-Shaped Short Long Bones Snail-Shaped Ilia Sacral Stenosis Round Vertebral Bodies Stillborn or Lethal in the Neonatal Period Short Splayed Ribs Often Transient Facial Palsy in Infancy Sudden Death Secondary to Impaction of Medulla Oblongata Majority of Cases in the Afrikaner Population of South Africa Caused by Mutations in the Sclerostin Gene (SOST) Deviation of Terminal Phalanges Lack of Diaphyseal Modeling Cortically Dense Long Tubular Bones Sclerotic Pelvis Sclerotic Pedicles Occlusion of Cranial Foramina Infantile-Onset Cranial Hyperostosis Prominent Asymmetric Mandible Broad Flat Nasal Root Deafness Secondary to Cranial Hyperostosis Frontal Prominence Mild or Moderate Gigantism Broad Dense Ribs Broad, Dense Clavicles Facial Palsy Secondary to Cranial Hyperostosis Caused by Mutations in the Seipin Gene Nearly Complete Absence of Mechanical Adipose Tissue See EBN1 for an Autosomal Dominant Form