28601 to 28700 most common queries

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

• Liver and Red Cell Uroporphyrinogen Decarboxylase Reduced
• Incidence of Hepatocellular Carcinoma Increased
• Skin Manifestation Less Frequently Observed in Cold Climates
• Common in South African Whites
• Attacks Often Drug-Induced
• Protoporphyrinogen Oxidase Activity Decreased (50%)
• Increased Urine Porphyrins At Times
• Fecal Protoporphyrin and Coproporphyrin Increased
• Cone-Shaped Epiphyses (2nd-4th)
• Normal Tarsal Bones
• Absent 5th Phalanges
• Lunate Triquetral Fusion
• Aplasia of the 5th Metacarpal
• Partial Complete Absence of 5th Phalanges
• Normal Ulnae
• Distinct from Premature Centromere Division
• Possible Increase of Aneuploidy in Offspring
• Fertility Reduced
• Affected Females May Have Increased Spontaneous Abortions
• Individuals with the PCS Trait Are Phenotypically Normal
• Shortened Metaphase
• PCS Involves Most of All Chromosomes of a Metaphase
• Bifid Sacrum
• Hemisacrum S2-S5
• Preserved Vertebra S1
• Anorectal Sinus
• Anterior Sacral Meningocele
• Paternal Age Effect
• Median Life Expectancy 13.4 Years
• Postnatal-Onset Growth Retardation
• Neonatal Vitreous Hemorrhages
• Compound Heterozygosity Common
• Onset Usually before Age 10 Years
• Mutation in the Ferrochelatase Gene
• Ferrochelatase Activity Reduced
• Excess Protoporphyrin in Bile and Feces but Not in Urine
• Fluorescence of Red Blood Cells by UV Microscopy
• Mild Hypertriglyceridemia
• Caused by Mutations in Cartilage Oligomeric Matrix Protein
• Genu Valgum, Genu Varum and Genu Recurvatum
• Elbow and Hip Extension Limited
• Irregular Mushroomed Metaphyses
• Anterior Flattening and-or Beaking of Vertebrae
• Adult Height: 82-130 cm
• Short Limb - Short Stature - Childhood Onset
• Medial Calcification of Medium-Sized and Major Arteries
• Yellowish Lip - Mucosal Nodules
• Peau D'Orange Retinal Changes
• Multiple Pterygia
• Genital Hypoplasia
• Usually Presents in Third to Fourth Decade
• Plexiform Vascular Lesions
• Arteries Show Intimal Fibrosis
• Arteries Show Medial Hypertrophy
• Arterial Vascular Wall Remodeling
• Possibly Restrictive Pattern in Pulmonary Function Tests
• Episodic Loss of Vision
• Mutations in the PITX2 Gene
• Hypodontia - Maxillary Incisors
• Iris Dysplasia (Goniodysgenesis)
• Mutations in the PMP22 Gene
• Foot Infections Leading to Amputation
• Possibly Onion Bulb Formations
• Upper Limb Action Tremor
• Truncating Mutations in CREBBP Found in 10% of Patients
• Keloid Formation in Surgical Scars
• Plantar Crease between First and Second Toe
• Broad Thumbs with Radial Angulation
• Risk of Tumor Formation Increased - Especially of the Head
• Average Female Adult Height 147 cm
• Average Adult Height of Males 153 cm
• Severe Expressive Speech Delay
• Maternal Uniparental Disomy - UPD7 - Reported in Some Cases
• Chromosome Rearrangements Reported
• Mostly Sporadic
• Heterogeneity
• Asymmetry of Arms and-or Legs
• Pseudohydrocephalic Appearance
• Partial or Total Asymmetry
• Lateral Asymmetry
• Average Female Adult Height 138 cm
• Average Adult Male Height 149.5 cm
• Possibly Growth Hormone Deficiency
• Prominent Elbows
• Extension of Elbows Limited
• See Also X-Linked EDMD
• Increased Risk of Sudden Cardiac Death
• Pelvic Muscle Involvement (Late Symptom)
• Proximal Limb-Girdle Muscle Weakness
• Distal Lower Limb Muscle Weakness and Atrophy
• Humeroperoneal Weakness and Atrophy
• Restricted Neck Movement due to Contractures
• Absent 3rd, 4th and 5th Ulnar Rays
• Hypoplastic, Absent or Deformed Radius
• Hypoplastic, Absent or Deformed Ulna
• Ectopic Upper Canines
• Arched, Sparse Eyebrows
• Deep Tendon Reflexes Absent or Decreased
• Structural Brain Abnormalities
• Pain Sensitivity Decreased