32401 to 32500 most common queries

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

• Short Round Larynx
• Hypoplastic Phalanges (First Digit)
• Lower Central Incisors Absent
• Short Stature - Postnatal Onset
• Poikiloderma
• Erythematous Skin Lesions In Infancy
• Forearm Reduction Defects
• Multiple Crown Malformations
• Small Saddle Nose
• Juvenile Zonular Cataracts
• Mental Retardation in 5-13%
• Silvery Blond Hair
• Absent Lobules
• Advanced Ossification of Carpal Bones
• Dumbbell-Shaped Short Long Bones
• Snail-Shaped Ilia
• Sacral Stenosis
• Round Vertebral Bodies
• Stillborn or Lethal in the Neonatal Period
• Short Splayed Ribs
• Often Transient Facial Palsy in Infancy
• Sudden Death Secondary to Impaction of Medulla Oblongata
• Majority of Cases in the Afrikaner Population of South Africa
• Caused by Mutations in the Sclerostin Gene (SOST)
• Deviation of Terminal Phalanges
• Lack of Diaphyseal Modeling
• Cortically Dense Long Tubular Bones
• Sclerotic Pelvis
• Sclerotic Pedicles
• Occlusion of Cranial Foramina
• Infantile-Onset Cranial Hyperostosis
• Prominent Asymmetric Mandible
• Broad Flat Nasal Root
• Deafness Secondary to Cranial Hyperostosis
• Frontal Prominence
• Mild or Moderate Gigantism
• Broad Dense Ribs
• Broad, Dense Clavicles
• Facial Palsy Secondary to Cranial Hyperostosis
• Caused by Mutations in the Seipin Gene
• Nearly Complete Absence of Mechanical Adipose Tissue
• See EBN1 for an Autosomal Dominant Form
• Seizures Resolve by 4 Months of Age
• Onset at 6-36 Hours of Life
• Possibly Seizure Disorder Later in Life
• Hypertonia in Neonatal Period
• Parainfluenza Pneumonitis
• Pneumonia - Particularly Pneumocystis Carinii
• Defective (Ca++) Mobilization in T Cells
• Normal Activity of Natural Killer Cells
• Abundant CD4+ T Cells
• Absent CD8+ T Cells
• Number of Circulating Lymphocytes Increased
• Normal Number of Circulating Lymphocytes
• Thin, Wrinkled Skin
• Dimples - Chin Buttocks
• Gracile Diaphyses
• Frequent Illnesses
• Lipoatrophy - Lower Face, Upper Limb, Buttock
• Birth Weight Less than 3rd Percentile
• Mean Life Expectancy: 13 Months
• Urine Free Sialic Acid Increased - 20-200x Normal
• Calcaneal Calcifications
• Albinoid Fundi
• Clear Cornea
• Generalized Hirsutism
• Fibroblast Free Sialic Acid Increased
• Urine Free Sialic Acid Increased
• Prevalent in Sweden
• Onset of Neurologic Symptoms Often by Age 30 Months
• Mutations in the ALDH3A2 Gene
• Pruritic Ichthyosis
• Palm Thickening
• Glistening White Dots in Fundus
• Shrill Screaming
• Incomplete Lobulation of the Lungs
• Cholesta-5,7-dien-3β-ol Increased
• Short Broad Toes
• Large Central Front Teeth
• Birth Weight < 2500 mg
• Microurethra
• Abnormal Sleep Pattern
• Hypertonia - Childhood
• Mutation in the IGF1R Gene
• Growth Hormone Normal or Increased
• Increased Serum Insulin like Growth Factor 1 (IGF1 147740)
• Fleshy Lower Lip
• Obsessive Tendencies
• Anxious Affect
• Estimated Carrier Frequency in Charlevoix-Saguenay Region is 1/22
• Caused by Mutation in the Sacsin Gene
• Swan Neck Deformities of the Fingers
• Hypermyelinated Retinal Nerve Fibers
• Sensory Nerve Conduction Velocity Decreased
• Distal Amyotrophy, Severe
• Truncal Ataxia Progressive
• Falls Increased
• Walking Development Delayed
• Wasting of the Hands is the First and Most Prominent Manifestation
• Onset of Hand Involvement at 14 to 60 Years