27101 to 27200 most common queries

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

• Cerebrospinal Fluid in Posterior Fossa Decreased
• Non-Communicating Isolated Syringomyelia
• Chiari Malformation Type 1 (MRI)
• Allelic to Craniometaphyseal Dysplasia
• Autonomic Symptoms Occur with Headaches
• Autosomal Recessive Inheritance Has Been Suggested
• Ipsilateral Lacrimation
• Ipsilateral Forehead Sweating
• Ipsilateral Facial Sweating
• Episodic Subtype - Headaches Occur in Clusters
• Severe Unilateral Headaches
• Episodes Usually Last 1 to 2 Days
• Episodes 0.5-3 Hours after Exposure to Cold
• Mutation in the NLRP3 Gene
• C-Reactive Protein Episodically Increased
• Episodic Swelling of the Extremities
• Late-Onset Renal Amyloidosis
• Episodic Headache
• Onset of Skin Manifestations from Birth to Puberty
• Mutation in the Elastin Gene
• Sparse Fragmented Elastic Fibers
• Skin Elasticity Decreased
• Premature Aged Appearance
• Caused by Trinucleotide Repeat Expansion CAGn in the DRPLA Gene
• Allelic to Dentin Dysplasia Type 2
• Skin Manifestations May Not be Present
• Mutation in the TERT Gene
• Infantile Afebrile Seizures with No Neurologic Sequelae
• Some Patients Have Milder Persistent Blistering
• Skin Lesions Resolve between 6 Months and 2 Years of Age
• Mild Atrophic Scarring
• Staining for Collagen 7 at the Dermal-Epidermal Junction Decreased
• Allelic to Pseudoachondroplasia
• Mutation in the DSP Gene
• Favorable Response to Oral Bile Acid Therapy
• Inborn Error in Bile Acid Synthesis
• Mutation in the HSD3B7 Gene
• Secondary Coagulopathy due to Liver Disease
• Normal Levels of Gamma-GGT
• Malabsorption of Fat and Fat-Soluble Vitamins
• Progressive Liver Failure
• Nonspecific Inflammation Shown On Biopsy
• Later Onset Has Been Reported
• Mutation in the Bone Morphogenetic Protein 4
• Flexion of Thumbs
• True Anophthalmia
• Small External Auditory Canals
• Small, Triangular Pinnae
• Absent Uterine Horn
• Underdeveloped Genitalia
• Absent Optic Nerves Chiasm and Tracts
• Respiratory Distress or Insufficiency
• Downward Tilt of Pubic Rami
• Unossified Vertebral Bodies
• Ossification of Pedicles Delayed
• Zipper-Like Pedicles
• Slender Long Bones with Narrow Diaphyses
• Progressive Osteopenia
• Progeroid Facial Appearance
• Unruly Hair
• Upswept Frontal Hair Pattern
• Tight Glistening Facial Skin
• Curved Incisors
• Large Anteverted Nasal Tip
• Triangular Shaped Ears
• Abnormal Ear Configuration
• Expressionless Facial Appearance
• Laterally Displaced Nipples
• A Contiguous Gene Deletion Syndrome Caused by Deletion
• Absence or Hypoplastic Middle Phalanges
• Bilateral Restrictive External Ophthalmoplegia
• Female to Male Ratio - 1 : 1
• Possibly Greater Expressivity in Females
• No Recurrence of Dystrophy after Penetrating Keratoplasty
• Microcystic Epithelial Edema
• Corneal Endothelial Guttata and Folds
• Early-Onset Corneal Degeneration
• Allelic to Tyrosinemia Type 3
• Increased Iron Deposition in the Basal Ganglia
• Loss of Independent Ambulation within a Few Years
• Progressive Loss of Movement Control
• Chorea of all Limbs
• Extrapyramidal Features
• Relatively Higher Cognitive Abilities than Classic Autism
• Restrictive Behavior, Interests and Activities
• Mutation in the Cytochrome P450 Subfamily IID6 Gene
• Most Patients Die from Heart Failure
• Symptoms May Be Aggravated by Acute Illness
• Mutation in the HADHA Gene
• Low Output Cardiomyopathy
• Acylcarnitines Increased
• Slowly Progressive Limb Girdle Myopathy
• Caused by Mutation in the Plakophilin 2 Gene (PKP2)
• Hip Replacement in Early Adulthood
• Onset of Joint Pain in Childhood
• Hypoplastic or Dysplastic Toes (3rd-5th)
• Osteochondromatosis - Knee
• Elongated Vertebrae
• Progeroid Appearance
• Phytanic and Pristanic Acid Normal