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Associated with Increased Paternal Age Anomalies of Cervical Vertebrae Lateral Palatal Swellings Parrot-Like Nose Exposure Conjunctivitis and/or Keratitis Occasional Mental Retardation Early Death in Patients with Cloverleaf Skull Increased Paternal Age Preauricular Skin Furrow Prominent Umbilical Stump Normal Intrauterine Growth Rugose Labia Majora Coagulation Defect due to Decreased Liver Function Complex III Activity in Liver Tissue Decreased Fibrosis On Biopsy Poor Postnatal Growth Renal Tubulopathy Itch Pain and Often Body Malodor Acral Hemorrhagic Variant Age of Onset 6-20 Years Distal V-Shaped Notching Longitudinal White or Red Subungual Streaks Fingernails Involved More Often than Toenails Acrokeratosis Verruciformis-Like Lesions on Dorsum of Hands Hemorrhagic Palmar and Plantar Macules Keratotic Plaques of Palms Odoriferous Hypertrophic Plaques Lesions of Oral Mucosa Recurrent Parotid Gland Swelling See Also Optic Atrophy Type 1 - an Allelic Disorder without Deafness Possibly Ophthalmoplegia in Middle-Aged Patients Mutation in the OPA1 Gene Absent or Decreased Auditory Brainstem Responses Asymptomatic Heterozygotes Susceptible to Lead Toxicity Urine Delta-Aminolevulinic Acid and Porphyrins Increased Erythrocyte Delta Aminolevulinate Dehydratase Deficiency Early-Onset Strokes in 43% of Patients Complete Penetrance at 30-40 Years of Age Death Usually in Sixth Decade of Life Adult Onset - Third Decade Affected Arteries Show Loss of Smooth Muscle Cells Long Perforating Arteries of the Brain Are Affected Vasculopathy of the Small Arteries Penetrating the White Matter Microbleeds Occur after Age 40 Years Lesions in the Internal Capsule after Age 40 Years Lacunar Infarcts Develop after Age 40 Years Subcortical Lacunar Lesions Seen Early in Disease Progressive Subcortical Dementia Recurrent Subcortical Infarcts Phenotypic Heterogeneity Degeneration of the Dentatorubral and Pallidoluysian Systems Primary Teeth More Severely Affected than Secondary Teeth Caused by Mutation in the Dentin Sialophosphoprotein Gene Severe Attrition Absent Pulp Chambers Root Canals Are Small or Obliterated Narrow Roots Bulbous Shaped Crown Brown-Blue or Opalescent Brown Teeth Type 3: Brandywine Isolate Opalescent Dentin Type 1 Associated with Osteogenesis Imperfecta (125490) Shields Classification Pulp Exposures Primary and Secondary Teeth Affected Reticulate Hyperpigmentation Onset Birth - 2 Years Non-Cicatricial Alopecia Affecting Scalp, Eyebrows, Axillae Nonscarring Blisters Hypohidrosis or Hyperhidrosis Reticulate Hyperpigmentation (Primarily Trunk) Reticulate Pigmentation of Oral Mucosa Reticulate Pigmentation (Bulbar Conjunctiva) In Response to DDAVP Administration, Urine cAMP Increased Normal Extrarenal Responses to dDAVP Administration Urine Osmolality Inappropriately Low Serum Osmolality Increased High Risk of Recurrence after Surgery Earlier Onset is Associated with More Aggressive Disease Course Onset in Fifth or Sixth Decade Contractures of the Fingers - Especially Fifth Finger Shortening of the Fascial Structures of the Palm and Fingers Thickening of Fascial Structures of Palm and Fingers New Skin Lesions Stop Appearing before Adolescence Median Survival is > 50 Years Median Age at Diagnosis: 28 Years Reticular Hyperpigmentation Allelic Disorder to Parkinson Disease Type 1 Phenotypic Overlap with Parkinson Disease Onset in 6th or 7th Decade Mutation in the Alpha Synuclein Gene Sensitivity to Neuroleptic Medication High Incidence among Ashkenazi Jews Occasional Adult Onset Onset in Mid to Late Childhood Caused by Mutations in the Torsion Dystonia 1 Gene Isolated Focal Dystonia May Occur Focal Dystonia (Adult Onset) Begins in Limbs - Later Generalized Onset between 13 to 37 Years Symptoms Precipitated by Sudden Movements Episodic Choreoathetosis