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Gingival Hyperplasia (71%) Thin Upper Lip (29%) Triangular Mouth Anteverted Nares (96%) Depressed Nasal Bridge Broad Nasal Bridge (95%) Short Upturned Nose (95%) Low-Set Ears (45%) Macrocephaly (26%) Renal Duplication (10%) Cryptorchidism (67%) Inguinal Hernia (21%) Small Penis (100%) Congenital Secretory Sodium Diarrhea Abdominal Distention at Birth Familial Form - Constitutional Deficiency of vWF-Cleaving Protease Mutation in the Von Willebrand Cleaving Protease Gene Onset Usually in Infancy although Later Onset May Occur Urine Thymine Increased Urine Uracil Increased Iodine Supplementation Superior to Thyroid Hormone Replacement Mutation in the Solute Carrier Family 5 Member 5 Gene Radioactive Iodine Uptake Decreased Hyperplastic and Adenomatous Thyroid Nodules Lethargy (when Taken off of Medication) Thyroid Iodine Accumulation Defect Mutation in the Solute Carrier Family 26 Member 4 Gene Thyroid Hormone Organification Defect Vestibular Function Defect Mutation in the Thyroglobulin Gene High FT3 : FT4 Ratio Excessive Iodide Trapping Mutation in the IYD Gene Iodine Depletion Tyrosine Loss Continuous Urinary Iodine Loss Rapid, High Radioactive Iodine Uptake and Turnover Thyroglobulin Absent or Abnormal T4 Low or Low Normal Jejunal Fibrosis and Degeneration Small Bowel Dilatation Progressive Intestinal Pseudoobstruction Incomplete Penetrance of Some Features Thick Skin (66%) Microspherophakia Ectopia Lentis (64%) Glaucoma (75%) Hair Shaft Diameter Decreased Varying Degrees of Hypotrichosis Caused by Mutation in the XPC Gene (XPC) Early Freckle-Like Lesions in Exposed Areas Large Jaw No Mechanical Intestinal Obstructive Lesion Abnormal Argyrophilic Neurons in the Myenteric and Submucosal Plexuses Abnormal Gastrointestinal Motility Malformation of the Insular Cortex Subcortical Band or Laminar Heterotopia in Female Carriers Thickened Alae Nasi and Columella Upturned Lobes Hypotonic Midface Mild Dysmorphic Features Multicystic Kidney Vermian Hypoplasia Broad Knees Normal Psychomotor Development until Age 2 to 3 Years Some Phenotypic Overlap with Rett Syndrome Males Rarely Affected Motor Dyspraxia Psychomotor Regression May Occur Infantile-Onset Seizures Onset in Late Childhood or Adulthood Muscle Biopsy Shows Myopathic or Dystrophic Changes Males Died in Neonatal Period Males Are More Severely Affected than Females Interrupted Aortic Arch Skewed X-Inactivation in Females Parathyroid Hormone Normal (Female) Calcium Normal (Female) Small Toenails in Males Flat Feet (Female) Cortical Thickening of Metacarpals in Females Excessive Number of Fingerprint Arches Small Hands (Male and Female) Cortical Thickening of Long Bones (Female) Narrow Iliac Wings (Females) Absent or Hypoplastic Frontal Sinuses in Females Widened Sutures (Male) Soft Tissue Growths at Angle of Mouth Choanal Atresia (Male) Posteriorly Rotated Ears in Females Small Ears Microcephaly - Male and Female Gallbladder Absent Intrauterine Growth Retardation (Males) Widely Spaced Nipples (Male) Extra Superior Temporal Gyrus (Females) Brain Volume Decreased IQ 85-115 in Females Fifth Toe Hypoplasia Continuous Spike-Wave Discharges during Sleep