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Autonomic Symptoms Occur with Headaches Autosomal Recessive Inheritance Has Been Suggested Ipsilateral Rhinorrhea Ipsilateral Nasal Congestion Ipsilateral Ptosis Ipsilateral Miosis Ipsilateral Lacrimation Ipsilateral Conjunctival Injection Ipsilateral Eyelid Edema Ipsilateral Forehead Sweating Ipsilateral Facial Sweating Episodic Subtype - Headaches Occur in Clusters Pain (Sharp Boring Drilling Piercing) Severe Unilateral Headaches Episodes Usually Last 1 to 2 Days Episodes 0.5-3 Hours after Exposure to Cold Mutation in the NLRP3 Gene C-Reactive Protein Episodically Increased Episodic Swelling of the Extremities Late-Onset Renal Amyloidosis Episodic Headache Onset of Skin Manifestations from Birth to Puberty Mutation in the Elastin Gene Sparse Fragmented Elastic Fibers Skin Elasticity Decreased Premature Aged Appearance Caused by Trinucleotide Repeat Expansion CAGn in the DRPLA Gene Allelic to Dentin Dysplasia Type 2 Skin Manifestations May Not be Present Mutation in the TERT Gene Infantile Afebrile Seizures with No Neurologic Sequelae Some Patients Have Milder Persistent Blistering Skin Lesions Resolve between 6 Months and 2 Years of Age Mild Atrophic Scarring Staining for Collagen 7 at the Dermal-Epidermal Junction Decreased Allelic to Pseudoachondroplasia Mutation in the DSP Gene Erythema - Blisters - Pustules Favorable Response to Oral Bile Acid Therapy Inborn Error in Bile Acid Synthesis Mutation in the HSD3B7 Gene Secondary Coagulopathy due to Liver Disease Normal Levels of Gamma-GGT Malabsorption of Fat and Fat-Soluble Vitamins Acholic Stool Progressive Liver Failure Nonspecific Inflammation Shown On Biopsy Later Onset Has Been Reported Mutation in the Bone Morphogenetic Protein 4 Flexion of Thumbs True Anophthalmia Small External Auditory Canals Small, Triangular Pinnae Angular Ears Flat Ears Absent Uterine Horn Underdeveloped Genitalia Hypoplastic Foreskin Absent Optic Nerves Chiasm and Tracts Respiratory Distress or Insufficiency Downward Tilt of Pubic Rami Unossified Vertebral Bodies Ossification of Pedicles Delayed Zipper-Like Pedicles Trilobed Liver Slender Long Bones with Narrow Diaphyses Thin Limbs with Prominent Joints Progressive Osteopenia Progeroid Facial Appearance Misaligned Eyebrows Unruly Hair Upswept Frontal Hair Pattern Tight Glistening Facial Skin Curved Incisors Long Everted Upper Lip Large Anteverted Nasal Tip Triangular Shaped Ears Expressionless Facial Appearance Laterally Displaced Nipples A Contiguous Gene Deletion Syndrome Caused by Deletion Absence or Hypoplastic Middle Phalanges Bilateral Restrictive External Ophthalmoplegia Female to Male Ratio - 1 : 1 Possibly Greater Expressivity in Females No Recurrence of Dystrophy after Penetrating Keratoplasty Microcystic Epithelial Edema Corneal Endothelial Guttata and Folds Early-Onset Corneal Degeneration Dysesthesias of the Lower Limbs Allelic to Tyrosinemia Type 3 'Eye of the Tiger' Sign on MRI Increased Iron Deposition in the Basal Ganglia Loss of Independent Ambulation within a Few Years Progressive Loss of Movement Control Chorea of all Limbs Extrapyramidal Features Relatively Higher Cognitive Abilities than Classic Autism Restrictive Behavior, Interests and Activities Mutation in the Cytochrome P450 Subfamily IID6 Gene Most Patients Die from Heart Failure