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Defective, Irregular Tarsal Ossification Limited Feet Motion Hand Motion Limited Anterior Stromal Haziness Anterior Cortical Cataracts Corneal Dystrophy Recurrent Skin Ulcerations - Face Trunk Limbs Flexion Contractures (Fingers) Fistulous Osteolysis around Joints Arthralgia - Hands, Feet, Ankles and Knees Limited Mobility of Proximal Interphalangeal Joint Stroke-Like Episodes Widened Metopic Suture Broad Tip Infra Orbital Crease Birth Weight 50-97th Percentile Characteristic Hoarse Voice Short Finger with Ulnar Deviation Ossified Pinnae Neonatal Cystic Lesions of the Pinnae Adult Height: 100-140 cm Normal Phytanic Acid Stippled Calcification of Proximal Humeral Epiphyses Episodic Hypothermia In Infants Hypoglycemia Episodic in Infants Mutation in the Dopamine Beta Hydroxylase Gene Fainting Spells Severe Recurrent Orthostatic Hypotension Plasma DBH Activity Undetectable Dopamine Release upon Stimulation of Sympathetic Fibers Dihydroxyphenylacetic Acid Increased Epinephrine Undetectable in Plasma Urine CSF Plasma, Urine and Cerebrospinal Fluid Norepinephrine Undetectable Delayed Neonatal Eye Opening (up to 2 Weeks) Impaired Ejaculation due to Decreased Sympathetic Activity Seizures May Occur during Hypotensive Episodes Eczema - Face and Flexural Areas Two-Three Toe Syndactyly Sparse Lateral Eyebrows Elongation of Face with Age Average Birth Head Circumference 30.6 cm Frequent Vomiting Average Birth Weight 2.3 kg Average Birth Length 44 cm Allelic with Smith-McCort Dysplasia Mutations in the FLJ90130 Gene Multicentric Ossification of Proximal Humeral Epiphyses Wide Symphysis Pubis Wide Pubic Ramus Wide Sacroiliac Joint Irregular Lacy Iliac Crests C1-C2 Dislocation Hyperpneumatization of Paranasal Sinuses Calvarial Thickening - Parietal and Occipital Regions Adult Height 98-127 cm Flared Acromion Costochondral Junction Enlargement Severe Psychomotor Retardation (IQ: 35-65) Prevalence in Persons of Ashkenazi Jewish Descent Increased Postural Hypotension without Compensatory Tachycardia Breath Holding Episodes Episodic Hyperhidrosis Erythematous Skin Blotching Sensitivity to Adrenergic and Cholinergic Agents Increased Lingual Fungiform Papillae Decreased or Absent Pupillary Contraction in Response to Methacholine Vomiting Crises Poor Oral Coordination Few Neurons in Dorsal Root Ganglia Neurons in Spinal Sympathetic Ganglia Decreased Large Myelinated Fibers Decreased Decreased Small Myelinated and Unmyelinated Fibers Hypoplastic Sural Nerve Intellect Is Unimpaired Prominent Autonomic Manifestations Vibratory Loss Occurs Later Decreased Pain and Temperature Perception Postnatal Cataracts Disturbed Equilibrium Red-Violet Macular Atrophy Sclerotic Carpals Short Thick Diaphyses Radiolucent Metaphyses Progressive Bowing of Long Bones Epimetaphyseal Sclerosis Pronounced Anterior Notches Intervertebral Spaces Widened Periorbital Sclerosis Poorly Calcified Teeth Narrow Chin Short, Thick Sternum Sclerotic Clavicles Short, Wide Ribs Sclerotic Ribs See Also Dyssegmental Dysplasia Type Silverman-Handmaker Lethal in 40% of Patients Short, Broad Tubular Bones Dumbbell Femurs Microcamptomelia Short Broad Bowed Long Bones