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No Progression to Cancer Double Superior Vena Cava Pulmonary Hypoplasia Secondary to Diaphragmatic Hernia Enlarged Ocular Globes Mutation in the TREX1 Gene Acrocyanosis of the Feet Anterior or Posterior Placement of Anus Anomalous Attachment of Gut Diaphragmatic Defect Often Unilateral and Left Sided Atretic Ureter Uterus and Vagina Duplex Muscle Pain and Cramps Following Exercise A Severe Infantile Variant Has Been Rarely Reported Late Adult-Onset Has Been Reported Exercise Intolerance Often Evident in Childhood Mutation in the Muscle Phosphofructokinase Gene No Increase of Muscle Lactate with Ischemic Exercise Testing Erythrocyte 2,3-Diphosphoglycerate Decreased Gout due to Increased Uric Acid Muscle Glycogen Content Increased Muscle Fibers May Contain Abnormal Polysaccharide Jaundice due to Hemolytic Anemia Gallstones due to Hemolytic Anemia Affects 1-2 in 400 Individuals of Northern European Descent Iron-Stainable Hepatic Parenchymal Cell Increased Patients Do Not Have Clinical Hypothyroidism Onset of Other Symptoms in Adolescence or Early Adulthood Onset of Mental Impairment in Early Childhood Short, Sparse, Fine Hair Atrophic Seminiferous Tubules Testicular Biopsy Shows Hypospermatogenesis MRI Shows Decreased Signal Intensities in the Basal Ganglia Failure of Secondary Sexual Development Hypogonadotropic Hypergonadism Affected Individuals Are Highly Prone to Burn Related Injuries All Other Sensory Modalities Are Intact Polyploid Sperm Heads Multi-Tailed Spermatozoa Irregularly Shaped Sperm Heads Large Spermatozoa Initial Cases Reclassified as Having Schwartz Jampel Syndrome Large Ossification Centers Absent Ossification of Capital Femoral Epiphysis No Coronal Clefts Joint Stiffness - Neck Shoulder Elbow Hips Normal Ribs Lateral Curving of Inferior Scapular Angle Adult Form Onset Has after 20 Years Juvenile Form Has Onset between 4 and 19 Years Late Infantile Form Has Onset between 19 Months and 4 Years Infantile Form Usually Leads to Death by Age 2 Years Infantile Form Accounts for 90% of Cases Infantile Form: Onset within First 6 Months of Life Mutations in the GALC Gene Diffuse Demyelinating Neuropathy 'Globoid Multinucleated Cells' in Brain Tissue Hypertonia in Early Stage Oligosyndactyly Life Threatening Metabolic Decompensation Dihydrolipoyl Dehydrogenase Deficiency Thiamine-Responsive Form Intermediate Most Patients Are Clinically Asymptomatic Methionine Increased Fetid Breath due to Increased Dimethylsulfide Neurologic Involvement Is Rare Self-Regulated Protein Restriction Mutation in the Methylmalonyl CoA Epimerase Gene Normal B12 Propionylcarnitine Increased Total Homocysteine Normal Mild Methylmalonic Aciduria Mutation in the GNPTAB Gene Valvular Heart Disease - Aortic Valve Stenosis Mutations in the GUSB Gene See Also X-Linked and Autosomal Dominant Forms Mutation in the BIN1 Gene Centralized Nuclei (Muscle Biopsy) Possibly Distal Muscle Weakness Absence of Hypertension Mean Age at Onset of End-Stage Renal Disease: 13 Years Mutation in the NPHP1 Gene Hyposthenuria - Inability to Concentrate Urine Normally Mutation in the Palmitoyl Protein Thioesterase 1 Gene Autosomal Dominant Omodysplasia Has Also Been Described Small Pterygia (Axillary, Popliteal) Hemangiomas (Face, Glabella) Short, Thick Fibulae Short Thick Tibiae Proximal Club-Shaped Femurs Anterolateral Radial Head Dislocation Hypoplastic Everted Lateral Condyle Radioulnar Diastasis Knee Flexion and/or Extension Limited Elbow Flexion and Extension Limited Thin Vermilion 35% of Cases Involve Ileum only 5-10% of Patients Have a First Degree Relative with Inflammatory Bowel Disease Aphthous Ulcers - Lips, Gingiva, Buccal Mucosa Transmural Granulomatous Inflammation with Skip Lesions