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Absent Lanugo Redundant Folds Microblepharon Rudimentary External Ears Zygomatic Arches Absent Aplasia or Hypoplasia of the Nipples Tapered Distal End of Hair Twisted Hair Shaft Mutation in the EVC2 Gene Mutation in the EVC Gene Variable Expressivity of Each Feature Most Common Inherited Bleeding Disorder Variably Expressivity Mucocutaneous Bleeding Prolonged Bleeding Time due to Quantitative Deficiency of VWF Protein Factor VIII Decreased VWF Antigen Decreased Mutation in the ANKRD26 Gene Mutation in the JAK2 Gene Mutation in the THPO Gene Most Frequent among Black Africans Ainhum of Toe (Usually 5th Toe) Absence of Lower Incisors Hypodactyly Caused by Mutation in the Adenylosuccinate-Lyase Gene Cupping and Flaring of Costochondral Junctions Banded Hair Shafts Irregular Cuticles on Hair Shafts Mutation in the TMEM16E Gene Favorable Response to Riboflavin Long Chain Acylcarnitine Species Elevated Hypoketotic Dicarboxylic Aciduria Caused by Mutation in the Transcription Factor 4 Gene Thick, Indurated Skin Relative Short Stature Diffuse Entrapment Neuropathy Short Trunk Dwarfism Identifiable at Birth Caused by Mutation in the CREB-Binding Protein Gene Antecubital Webbing Limited Elbow Extension with Normal Elbow Flexion Posterior Subluxation of the Radial Head Caused by Mutation in the Homeobox HB9 Gene Paradoxical Sweating Response Ratio Female to Male 19:10 in Index Family Late-Onset Corneal Degeneration Variable Severity of Brain Malformations Death in Infancy in 2 Patients Mutation in the GLUL Gene Necrotic Epidermolysis Blistering Erythematous Rash Glutamine in Bodily Fluids Decreased Micromelia Small Smooth Cerebellum Attenuated Gyri Onset Usually by Age 2 Years Mild to Moderate Neck Muscle Weakness Mild to Moderate Facial Muscle Weakness Mild to Moderate Muscle Weakness of the Face and Neck Mild to Moderate Proximal Limb Muscle Weakness Corpus, Tail and Uncinate Process Absent Pancreatic Head Enlarged Susceptibility to Diabetes Mellitus Mutation in the Aggrecan Gene Brachydactyly in the Distal Phalanx of the First and Third Digits Slightly Shorter Metacarpal Bones II, III, and IV Numbness of the Little Finger and Ulnar Half of the Ring Finger Broadening of the Head of the Radius Flattening of the Capitulum of the Humerus Loss of Movement in the Knees Loss of Movement in the Elbows High Ratio between Sitting Height and Total Height Low Intervertebral Discs in Thoracic and Lumbar Spine Polyarticular Villonodular Synovitis Mutation in the Uromodulin Gene Caused by Mutation in the Collagen VI Alpha-2 Polypeptide Gene Mutation in the COL6A1 Gene Exaggerated Oral Rugae and Frenula Intraoral Mucosal Overgrowth Progressive Thickened Lips Thickened Upper Eyelids Large, Doughy Hands No Facial Weakness Muscle Biopsy Shows Core-Like Regions Devoid of Oxidative Activity Loss of Myofibrillar Organization (Muscle Biopsy) Muscle Biopsy Shows Type 1 Fiber Predominance and Hypertrophy Progressive Fatty Infiltration of Muscle Poor Exercise Tolerance Slow Motor Responses to Sudden Events like Falling Limb Muscle Weakness Proximal Upper and Lower Gait Abnormalities due to Muscle Weakness Mitochondrial Abnormalities in Nerve Biopsy Pyramidal Features Non-Robertsonian Constitutional Translocation t(11;22)(q23;q11.2) Infantile Onset with Hepatic Involvement Rapidly Progressive Neonatal Onset with Early Death Mutation in the CD3D Gene Mutation in the IL7R Gene Serum Immunoglobulins May Be Absent, Normal or Increased Number of Peripheral Blood B Cells Normal or Elevated Numbers of Functional Natural Killer Cells Normal or Elevated