Sitemap | Symptoma 32001 to 32100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. S-Shaped Blepharoptosis Apical Cartilage Deformity Usually Congenital Hyperkeratosis, Possibly Later Onset Mutation in the ATP2A2 Gene Longitudinal Red and White Lines No Acantholysis or Dyskeratosis Prominent Granular Cell Layer Punctate Keratoses on Palms and Soles Multiple Flat Skin-Colored Warty Papules Severity of Phenotype Negatively Correlates with S-Ado/SAICAR Ratio Adenylosuccinase Deficiency S-Ado/SAICAr Ratio Decreased Increased Succinylaminoimidazole Carboxamide Ribotide (SAlCAr) Urine and Cerebrospinal Fluid Succinyladenosine Increased Happy Demeanor Poor Language and Speech Development See Also Pseudohypoparathyroidism Type 1b and 1c See also Pseudohypoparathyroidism One of the Most Common Autoimmune Diseases Peribulbar Lymphocytic Infiltrate (on Scalp Biopsy) Alopecia Universalis - Entire Loss of All Hair on Body Trachyonychia - Rough Surfaced Nails Caused by Mutation in the Enamelin Gene Incisal Edge or Occlusal Surface Usually Not Involved Enamel Has Horizontal Row of Pits or Linear Depressions See also X-Linked Dominant Form No Male-to-Male Transmission More Common in Women (90%) Associated with Increased Frequency of Autoimmune Diseases Laryngeal Edema Can Result in Asphyxiation Highly Variable Frequency and Severity of Attacks Symptoms Typically Begin in Childhood Mutation in the C1 Esterase Inhibitor Gene Impaired Distal Sensation of All Modalities Distal Vasculitic Peripheral Axonal Neuropathy Mutation in the Antithrombin III Gene Mutation in the TGFB3 Gene Ventricular Arrhythmia (PVC, NSVT, and VT) Often Associated with Klippel-Feil Syndrome Often Associated with Chiari Type 1 Malformation Base of the Skull Is Flattened on the Cervical Spine Occipitalization of the Atlas Hypoplasia of Cervical Paravertebral Muscles Allelic to Acrocapitofemoral Dysplasia Mutation in the TFAP2A Gene Caused by Mutation in the Eyes Absent 1 Gene (EYA1) Aplasia or Stenosis of Lacrimal Duct Narrowed External Ear Canal Hypoplastic Pinnae Malformed Pinnae Therapy-Induced Dyskinesias Oculogyric Dystonic Spasms Facial-Faucial-Finger Mini-Myoclonus Mutation in the FH Gene Optic Pallor Angulation of the Frontal Horns Ventricular Enlargement Most Patients Do Not Achieve Independent Sitting or Walking Allelic to Senior Loken Syndrome 4 Allelic to Hand Osteoarthritis Allelic to Spondyloepimetaphyseal Dysplasia Type Matrilin-3 Trinucleotide Repeat Expansion in the TBP Gene Cerebral White Matter Lesions Velocity of Larger Saccades Increased Overshooting Horizontal Saccades Allelic to Dyggve-Melchior-Clausen Disease Vacuolated Monocytes Anisopoikilocytosis Sagittal Vertebral Cleft Inheritance of the Mutation on the Maternal Allele (Imprinting) Mutation in the GNAS1 Gene Erythrocyte Gs Activity Normal Erythrocyte Gs Activity Reduced Normal Urinary Cyclic AMP Response to PTH Administration No Hormone Resistance Mild Dysmorphism 1.35-Mb Duplication of 1q21 Hypoplasia of Corpus Callosum and Cerebellar Vermis Smooth Upper Vermilion Border High Nasal Root Widened Inner Canthal Distance Receding Short Forehead Valvular Defects Long Straight Eyelashes Usually More Severe Phenotype in Autosomal Recessive Cases Symptoms May be Exacerbated by Pregnancy or Trauma Onset of Symptoms in Second or Third Decade Retroflexion of Odontoid Process Decreased Length of Clivis Slope of Tentorium Increased Decreased Height of Supraocciput Compression of Cerebellar Cisterns Volume of Posterior Cranial Fossa Decreased Floaters, Flashing Lights, Visual Field Cuts Non-Specific Ocular Disturbances Otoneurologic Disturbances Cerebrospinal Fluid in Posterior Fossa Decreased Chiari Malformation Type 1 (MRI) Suboccipital Migraine-Like Headache upon Coughing - Sneezing - Bending Forward - Lifting - Neck Extension Allelic to Craniometaphyseal Dysplasia
