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Short Metacarpals III-V Oligodontia Delayed Eruption of Primary and Secondary Teeth Onset in Early Twenties Mutation in the HSPB3 Gene Atrophy of the Intrinsic Foot and Hand Muscles No or Mild Distal Sensory Deficit Contiguous Gene Syndrome due to Deletion of 17q23.1-q23.2 (2.2 Mb) Thin Toes Long Toes Ossification Defects Variable Mild Facial Dysmorphism Mild to Moderate Developmental Delay Mutation in the SH3TC2 Gene Patchy Axonal Neuropathy Possibly More Widespread Axonal Polyneuropathy Mononeuropathy of the Median Nerve Electroretinogram Responses Decreased or Absent Visual Field Restriction Scant Bone Spicule Pigment Perimacular Retinal Surface Wrinkling Poorly Reactive Pupils High Frequency in Southern India About 5% of Patients Have a History of Febrile Seizures Non-Reflex Epilepsy (Late Symptom in 16-38% of Patients) Male-to-Female Ratio: 2-2.5:1 Seizures Usually Followed by Drowsiness Seizures Last about 30 Seconds to 3 Minutes Seizures Are Provoked by Immersion in Hot or Warm Water Possibly Hypermetabolism of the Temporal Lobe Ictal EEG Shows Focal Temporal Unilateral Rhythmic Slow-Wave Activity of High Amplitude Non-Specific Changes in Interictal EEG (15-20%) Interictal EEG is usually Normal Secondary Generalization in about 33% Low IgG with Antibody Deficiency Lymphocytes Normal or Elevated Repeated Invasive Infections Puffy and Droopy Eyelids Square Chin Sudden Death due to Cardiac Arrhythmia May Occur Transient IgA Deficiency Smooth Muscle Hypertrophy in the Gastrointestinal Tract Generalized Loss of Subcutaneous Fat Caveolae in Muscle Tissue Reduced Secondary Loss of Sarcolemmal Caveolin 3 Sarcolemmal Immunostaining for PTRF Decreased Prominent Muscular Appearance Percussion-Induced Muscle Mounding (Muscle Rippling) Growth Hormone Secretion Decreased Acromegaloid Features Bone Abnormalities Improve with Age Absence of Epiphyseal Ossification of the Knees Slight Widening of the Distal Femoral Metaphyses Horizontal Acetabula with Medial and Lateral Spurs Nasal Width Increased Short Stature, Prenatal and Postnatal Cupped End Ribs Allelic to Limb-Girdle Muscular Dystrophy Type 2L Independent Ambulation Maintained Onset Age 20 to 51 Years Muscle Weakness and Atrophy May Be Asymmetric Quadriceps Atrophy Proximal Upper and Lower Limb Muscle Weakness Difficulty Rising from Chair Hypertrophy of the Extensor Digitorum Brevis Muscles Calf Atrophy Calf Hypertrophy (Early Symptom) Calf Muscle Discomfort Inability to Stand on Tiptoes Mutation in the F13A1 Gene Normal Rod Function on ERG Severe to Complete Colorblindness Mutation in the AP4M1 Gene Venous Thrombosis and/or Embolism Perispinal Vascular Malformations Venous Malformation Progressive Vascular Malformation with Cutaneous Involvement Multiple Small Nevi Linear Epidermal Nevus Talipes Deformities Furrowed Sole Plantar Overgrowth Macrodactyly Windswept Hand Wide Hands Palmar Overgrowth Dislocated Knees Megaspondylodysplasia Prenatal Overgrowth Agenesis or Hypoplasia of Kidney Regional Lipohypoplasia Lipomas or Lipomatous Masses Spasticity - Paresis Neural Tube Defect Prostaglandin E2 Increased Normal or Increased Numbers of B Cells Recurrent Enteritis Feeding Problems Necessitating Tube Feeding Moderate Cortical Atrophy Athetoid and Dystonic Hand Movements