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26801 to 26900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Slowing of Nail Growth
Onycholysis of Distal Nails
Sensitivity to Cold with Paresthesias
Fissures of Soles
Palmoplantar Hyperhidrosis
Secondary Tumors Develop within the Skin Lesions
Variable Extracutaneous Manifestations
Onset of Skin Lesions at Birth
Mutation in the KRAS Gene
Lesions Follow the Lines of Blaschko
Phosphaturia May Disappear after a Long Period of Time
Neurologic Abnormalities in about 7%
Limited Hip Flexion
Abnormal Axons with Sprouting and Swelling
No Sensory Defects
Hypertension is Presenting Sign
Onset in Young Adulthood or Adulthood
No Complement Deposition
Some Sclerotic Glomeruli
Renal Biopsy Showed Interstitial Fibrosis
Not All Nails Are Affected in Some Patients
No Abnormalities of Skin Hair Teeth or Bones
Present at Birth or Onset in Early Childhood
Thickened Verrucous Skin at Free Border of Nails
Thickened Ragged Cuticle
Opalescent, Dull Nails
Distal Onycholysis
Fragile or Brittle Nails
Superficial Pitting
Excessive Longitudinal Ridging (Trachyonychia)
Rough Sandpaper-Like Fingernails and Toenails
Caused by Mutation in the Keratin 14 Gene
Mutation in the DNM2 Gene
Variable Response to Acetazolamide and Carbamazepine
Some Patients May Develop Interictal Progressive Ataxia
Interictal Myokymia
Incoordination of the Hands
Seizures Are Sensitive to Hyperventilation
Onset of Seizures at Age 7-12 Years
Onset of Muscle Weakness around Age 5 Years
3-4 Hz Slow Sharp-Waves
Normal Early Psychomotor Development
No Sensory Impairment
Mild Cognitive Delay
Primary Trabeculodysgenesis
No Abnormalities of Hair Teeth or Bones
Sparing of Some Nails in Some Individuals
Intrafamilial Variability in Degree of Nail Involvement
Spoon-Shaped Toenails
Ductal Proliferation Seen on Biopsy
Hepatic Fibrosis Seen on Biopsy
Jaundice Resolves in Postpartum Period
Many Cases due to De Novo Mutation
Contiguous Gene Syndrome Caused by Deletion of 18p11.21-p11.1
Caused by Mutation in the Keratin 9 Gene (KRT9)
Caused by Mutation in the Keratin 1 Gene
Aggregated Tonofilaments at Cell Surface
Cytolysis of Keratinocytes in Spinous and Granular Layers
Perinuclear Vacuolization of Keratinocytes
Large Irregularly Shaped Keratohyalin Granules
Thickened Granular Layer of Epidermis
Narrow Alar Root
Broad Mid Nose
Anomalous Middle Ear Bones
Incomplete Jaw Opening
Pericardial Fibrosis Requiring Pericardiectomy
Recurrent Laryngotracheal Stenosis
Menstrual Abnormality
Onset of End-Stage Renal Disease 15-20 Years after Onset
Onset of Proteinuria in Third to Fourth Decade of Life
Percussion Contraction of the Tongue
Motor Neuropathy More Prominent than Sensory Neuropathy
Most Patients Retain Ambulation with Aids
High-Frequency Spontaneous Discharges (EMG)
Hang Weakness
Distal Muscle Weakness and Atrophy - Upper and Lower Limbs
Hyperexcitability of Peripheral Nerve Fibers
Action Myotonia
Impaired Gait due to Peripheral Neuropathy
Mutation in the MYH11 Gene
Peripheral Artery Occlusive Disease
Intracranial Carotid Aneurysm
Dissection of Descending Aorta
Aneurysm of Descending Aorta
Ascending Aorta Dissection
Progressive Early Onset Myopia
Flattened Epiphyses around Knee Joint
Mildly Shortened Vertebral Bodies
Onset Usually after Viral Infection
Contiguous Gene Deletion of Imprinted Region of 11p15.5
Contiguous Gene Duplication of Imprinted Region of 11p15.5
Mutation in the KCNQ1 Overlapping Transcript 1 Gene
Duplication or Deletion at 11p15.5
Onset in Childhood or Adolescence
Whispering Dysphonia
Coniform Teeth
Fissured Nails
Hypoplasia or Absence of Distal Phalanges
Syndactyly of Toes
Bulbous Swelling of the Fingertips