33201 to 33300 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Bilateral Club Feet
• Calcific Deposits in Ischium and Pubis
• Vertebral Calcifications
• Hypoplasia of Malar Eminences
• Failure to Thrive in Early Infancy
• Milder Expression in Female Heterozygotes
• Straight, Coarse Hair
• Small Fingernails
• 'Drumstick' Terminal Phalanges
• Large Soft Hands
• Joint Range of Motion Increased
• Large Medial Incisors
• Large, Open Mouth
• Weight Less than 3rd Percentile
• Short Bifid Sternum
• Bilateral Chorioretinopathy
• Possible Genetic Heterogeneity
• Primarily Diagnosed in Females
• Mutation in the EFNB1 Gene
• Hemihypotrophy of Lower Limb
• Interorbital Distance Increased
• Clavicle Pseudoarthrosis
• Pectus Excavatum in Males
• Severe Micrognathia
• Deafness Is Presenting Symptom
• Mutations in the Deafness-Dystonia 1 Gene
• Postlingual Progressive Sensorineural Deafness
• Mutation in the FOXP3 Gene
• Possibly Lymphadenopathy
• Variable Autoimmune Disorders
• No Vasopressin- or DDAVP-Induced Increase in Urine cAMP
• Vasopressin Normal or Increased
• Lower Urinary Tract Dilatation May Occur
• Onset of Pancytopenia at Median Age 10 Years
• Median Age at Onset of Leukoplakia: 7 Years
• Median Age at Onset of Nail Dystrophy: 7 Years
• Median Age of Onset of Pigmentation 8 Years - Range 1-15 Years
• Median Age of Diagnosis - 15 Years
• Caused by Mutation in the Dyskerin Gene (DKC1)
• Pterygium Formation
• Longitudinal Splitting
• Reticulated Skin Pigmentation Predominantly on Face, Neck, Chest, Arms
• Chromosomal Rearrangements Increased
• Squamous Cell Carcinoma - Skin or Mucosa
• Susceptible to Hyperthermia
• Mutation in the Ectodysplasin A Gene
• Hoarse Voice due to Dry Laryngeal Mucosa
• Atrophic Mucosa Causing Dysphonia
• Atrophic Pharyngeal Mucosa
• Blonde, Fine Scalp Hair
• Fine, Brittle Hair
• Hypoplastic or Absent Sebaceous Glands
• Skin Peeling or Scaling
• Mild, Localized Abnormalities of Pigmentation
• Sweat Pore Aplasia
• Adontia
• Palatal Depth Decreased
• Depressed Nasal Root and Bridge - 'Saddle Nose'
• Absent Meibomian Glands
• Absent Tears
• Small Facial Height
• Small Cranial Length
• Hypoplastic or Absent Mammary Glands
• Spheroids
• Mild Tissue Fragility
• Mild Scarring
• Lysyl Oxidase Activity Normal
• Small Short Nose
• Prominent Ear Lobules
• Mental Retardation (33%)
• Friendly, Sociable Personality
• Joint Hyperlaxity (Infancy)
• Affected Males Are All Result of New Mutation
• 90% of Cases in Females
• Majority of Cases (95%) Are Sporadic
• Anonychia of Toenails
• Absent Fingernails
• Onychodystrophy (Spooned Nails, Grooves)
• Hypoplastic Fingertip Epidermal Ridges
• Arborescent Papillomas - Axillae, Periumbilical Area, Anus, Vulva
• Localized Cutaneous Deposits of Superficial Fat
• Linear or Reticular Hyperpigmentation
• Failure of Pubic Bone Fusion
• Papillomas - Lip Gingiva
• Alar Cleft
• Ectopia Lentis (6%)
• Microphthalmia (15%)
• Protruding Simple Ears
• Esophageal Papillomas
• Mental Retardation (15%)
• Subglottic Tracheal Narrowing
• Wide, Elongated Phalanges
• Finger and Wrist Contractures
• Density of Long Bone Diaphyses Increased
• Erlenmeyer Flask Appearance of Femur and Tibia
• Contractures of the Knees and Ankles
• Wide Interpedicular Distance
• Hypoplastic Condyloid Process
• Incomplete Sinus Development
• Progressive Mixed Conductive and Sensorineural Hearing Loss