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Hearing Loss Affects All Frequencies Prelingual Sensorineural Hearing Loss Phenotypic Overlap with Currarino Syndrome Considered to Be a Manifestation of the Caudal Regression Syndrome Coccyx Defects Hemisacrum Anterior Sacral Hemidefect Constipation due to Mass Effect of Meningocele Urinary Retention due to Mass Effect of Meningocele Anterior Sacral Lipoma Cysts Tend to Enlarge with Age Oromandibular Dyskinesia Onset between 7 and 18 Years Frequency in the Faroe Islands Increased Urine Carnitine Esters Increased Serum and Cerebrospinal Fluid Lactate Increased Depletion of mtDNA in Skeletal Muscle Peripheral Axonal and Demyelinating Neuropathy Imaging Shows Signal Abnormalities in Basal Ganglia No Mature Hair Follicles (Scalp Biopsy) Alopecia of Variable Severity Hyperpigmentation in Flexure Areas Brain MRI Shows Hypoplastic Pituitary Lower Motor Neuron Dysfunction Motor Deterioration in Second Decade Puberty Absent or Delayed Dysplasia of Nasal Bones with Midface Protrusion 2 Patients Described Translocation of Chromosomes 9 and 13 Arnold-Chiari I Malformation Benign Parathyroid Hyperplasia Extinguished Electroretinograms in Second or Third Decade Bone Spicule Pigment Deposits Retinal Mutation in the PROM1 Gene Endolymphatic Hydrops Delayed Onset Unilateral Deafness - Childhood Onset Highly Penetrant, Low Morbidity Early Onset in Some Patients Caused by Mutation in the Cardiac Muscle Alpha Actin 1 Gene Septal Bulge of Left Ventricular Outflow Tract Variable Extent of Hypertrophy in Mutation Carriers Mutation in the Cysteine and Glycine Rich Protein 3 Gene Concentric Hypertrophy Mutation in the NFKBIA Gene Light, Sparse Hair Sweat Glands Absent Impaired Immune Responses Defective Production of NFKB1-Dependent Cytokines by Leukocytes Low or Normal Serum Immunoglobulins Hypoplastic Ears Fused to the Scalp See Also Junctional EB with Pyloric Atresia Usually Death in Infancy Mutation in the PLEC1 Gene Absence of Plectin-1 Immunostaining Hemidesmosomes May Be Disrupted Cleavage within the Lower Part of Basal Keratinocytes Variable Age of Onset Ranging from 11 to 50 Years Mutation in the DFNA5 Gene Duodenal Villous Atrophy Early Death in Most Cases Right Aortic Arch Unilobular Lung Hypoplasia or Absence of Optic Nerve Broad Flared Eyebrows Hypoplastic Renal Arteries Extreme Skin Fragility Congenital Absence of Skin in Some Areas - Aplasia Cutis Maternal Alpha Fetoprotein Increased if Fetus Affected Brain Hypomyelination Weakness of the Linea Alba Abdominal Wall Muscular Deficiency Nonsyndromic Telangiectatic Mucosal Blood Vessels Small Vessel Microangiopathy Dilation of Left Ventricular Chamber Dilation of Left Atrial Chamber Gradual Progression of Hearing Loss Caused by Mutation in the Myosin Viia Gene (MYO7A 276903-0011) Gently Sloping or Flat Audiogram Moderate Postlingual Sensorineural Hearing Loss Mild Vertigo Mild Vestibular Dysfunction Duodenal and-or Jejunal Atresia Hypoplastic or Absent Gall Bladder Hypoplastic or Annular Pancreas Allelic to Usher Syndrome Type 1D Onset Usually in Second or Third Decades Smooth Muscle May Also Become Involved Constipation due to Smooth Muscle Involvement Allelic Disorder to Autosomal Recessive Deafness Type 21 - DFNB21 Hearing Loss May Be Stable or Progressive Prelingual or Childhood Onset Mutation in the TECTA Gene U-Shaped Audiogram Affects Mid to High Frequencies Contractures of the Metacarpophalangeal Joints Contractures of the Proximal Interphalangeal Joints Thumb Adduction Allelic Disorder to Osteoporosis Pseudoglioma Syndrome Glycine Decreased to Normal