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Pneumocystis Carinii Infection Chronic or Cyclic Neutropenia Normal B Cell Count Mutations in the IKBKG Gene Thin Sparse Hair Wiry Coarse Hair Atrophic Patchy Alopecia Subungual Keratotic Tumors Most Evident on Lower Legs Stage 4 Skin Pallor Atrophy and Scarring Fades in Adolescence Streaks and Whorls Follows Blaschko's Lines Primarily Affects Trunk Skin Hyperpigmentation Stage 3 Affects Distal Limb and Scalp Stage 2: Skin Papules, Verrucous Lesions, Hyperkeratosis Occurs in Linear Distribution Affects Limbs and Trunk Onset Birth-Newborn Period Stage 1 - Skin Erythema, Vesicles, Pustules Leukocytosis with Eosinophilia during Stage 1 Lesions in Basal Ganglia, Brainstem, Cerebellum, Thalamus, Spinal Cord Caused by Mutation in the Chloride Channel 5 Gene Renal Biopsy Shows Focal Tubular Atrophy Caused by Mutations in the OCRL1 Gene (OCRL1) Sebaceous Cysts - Buttocks and Perineum Abnormal Serum Protein Electrophoresis Total Protein Elevated Acid Phosphatase Increased Flexion Contractures of the Digits Dense Posterior Cortical Cataract Fine Lens Opacities Stereotypic Behaviors (Tantrums, Aggressiveness) Otopalatodigital Syndrome Type 2 Is an Allelic Disorder Otopalatodigital Syndrome Type 1 - OPD1 - Is an Allelic Disorder Affected Males Who Survive Are Secondary to New Mutations Fifty Percent of Cases Secondary to New Mutations Non-Compaction of Ventricular Myocardium Skin Hyperlaxity Frontal Hirsutism Hypoplastic Distal Phalanx Iliac Flaring Anteriorly Concave Thoracic Vertebrae Tall Vertebrae Paranasal Sinus Development Delayed Dense Skull Base Hypoplastic Coronoid Process Small Mandible with Obtuse Angle Prominent Hirsute Forehead Short to Normal Stature Irregular, Ribbon-Like Ribs Twisted and Partial Breaks on Magnification Steely, Kinky, Sparse Hair Copper and Ceruloplasmin Decreased Metaphyseal Widening with Spurs Pudgy Cheeks Symptomatic if > 200 Repeats Folate-Dependent Fragile Site at Xq28 Postpubertal Macroorchidism Caused by Mutations in the Helicase 2 Gene Absence of Hb H Inclusions in Red Blood Cells Clinodactyly of Isolated Digits Slender, Tapering Fingers Tented Upper Lip Vermilion Short, Thin Upper Lip Hyperfolded Ears Small Philtrum Narrow Forehead Gut Dysmotility Mild Obesity Self-Absorbed Fingers in Mouth Repetitive Self Stimulatory Behavior Using Upper Limbs Hypertonia of Lower Limbs (Later) Carrier Females Are Normal Mutation in the SMS Gene Skin Dimple on Lower Back Double Row Lower Incisors 11 Rib Pairs Caused by Mutation in the Holocytochrome C Synthase Gene Asymmetric Linear Skin Defects (Anterior Face and Neck) Short Stature (3rd-10th Percentile) Prenatal Diagnosis Available Survival to 20s - 60s in IIB Death before Age 15 in Type 2A Two Forms - 2A severe and 2B mild Onset 2-4 Years of Age in 2A Dermatan and Heparan Sulfate Excretion in Urine Mucoid Nasal Discharge No Corneal Opacities Adult Height: 120-150 cm Normal Intelligence in Type 2B Neurodegeneration Leading to Profound Mental Retardation Usually Onset at Age <6 Years and Death by Age 20 Years Pulmonary Hypoventilation Dystrophin Absent on Muscle Biopsy Risk of Sudden Death due to Cardiac Defects Absence of Muscle Pseudohypertrophy Absence of Emerin by Immunohistochemistry on Muscle Biopsy