38301 to 38400 most common queries

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

• Shortening of the Metatarsals
• Diaphyseal Shortness
• Severe Epiphyseal Hypoplasia
• Wide Femoral Neck
• Protruding Iliac Wings
• Small Sacrum
• Short Proximal and Middle Phalanges
• Brachydactyly E-Like Changes
• Very Short Distal Phalanges (2nd-5th)
• Absent Styloid Processes
• Acetabular Spurs (Infancy)
• Biconcave Vertebrae (Fish-Mouth Vertebrae)
• Mild Platyspondyly
• Death within First Decade
• Prevalent in Ashkenazi Jews
• Onset of Symptoms at 2-4 Months
• Normal First Month
• Caused by Mutations in the Aspartoacylase Gene
• Aspartoacylase Activity in Cultured Skin Fibroblasts Reduced
• Urine Cerebrospinal Fluid and Blood N-Acetyl-L-Aspartic Acid Increased
• Spongy Degeneration of Brain (Histology)
• Late Decerebrate or Decorticate Posturing
• Loss of Very Early Milestones
• Initial Hypotonia Followed by Spasticity
• Onset 7 to 15 Months of Age
• Possibly Degeneration of the Globus Pallidus
• Choreoathetosis of the Face, Trunk, Extremities
• Short Broad Palate
• Activity of Succinic Semialdehyde Dehydrogenase Decreased
• Plasma and Cerebrospinal Fluid GABA Increased
• Urinary Excretion of Gamma Aminobutyric Acid Increased
• Cerebrospinal Fluid and Plasma GHB Increased
• Increased Urinary Excretion of 4-Hydroxybutyric Acid (GHB)
• Psychosis in Older Patients
• Mild Autism
• Hyperintensities in the Globus Pallidus (T2-Weighted)
• Approximately 30% of Patients Show Normal Early Development
• Mild to Severe Development Delay
• Restlessness, Agitation, Crying under Stress
• Mild Eczema
• Urine Sulfate Decreased
• Urine Sulfite Increased
• Sulfite Oxidase Activity in Fibroblasts Decreased
• Teething Delayed
• Generalized Dystonia
• Mutation in the Filamin B Gene (FLNB 603381)
• Range of Motion at Elbows Decreased
• Unilateral Unsegmented Bar
• Broad Square Nasal Tip
• Round, Broad Face
• Usually Fatal by Age 5 Years
• Mutations in the HEXA Gene
• Ballooned Neurons
• Macular Pallor with Prominence of Fovea Centralis (Cherry-Red Spot)
• Deep Palatal Fovea
• Hypoplastic Maxillary Sinus
• Pseudoanodontia
• Multiple Non-Erupting Secondary Teeth
• Affected Infants Die in Neonatal Period
• Bilobar Right Lung
• Rudimentary Ovaries
• Malformed Uterus
• Rarely Autosomal Dominant Inheritance
• Mutation in the Integrin Beta 3 Gene
• Deficiency of Glycoprotein GP-IIb-IIIa Complex
• Coomb-Negative Microangiopathic Hemolytic Anemia
• Ultra-Large von Willebrand Factor in Plasma
• Focal Neurologic Signs
• Fluctuating Neurologic Signs
• Olecranon Unfused
• Mutations in the Thyroid Peroxidase Gene
• Tyrosine Iodination Defect
• Thyroid Peroxidase Defect
• Defective Thyroid Oxidation and Organification of Iodide
• Levels of Free Thyroid Hormones Normal or Mildly Decreased
• Patients with Hypothyroidism Have Hypoplastic Thyroid Gland
• Possibly Hypothyroidism
• No Goiter
• Normal Sized Thyroid Gland
• Euthyroidism
• Liveborn Often Die within First Week of Life
• Mutation in the LMNA Gene
• Caused by Mutation in the Zinc Metalloproteinase STE24 Gene
• Normal Scalp Hair
• Sparse or Absent Lanugo
• Long Nails
• Absence of Normal Rete Ridge Pattern
• Abnormal Alignment of Collagen Bundles
• Dermal Thinning
• Prominent Superficial Blood Vessels
• Tight, Rigid Skin
• Overtubulated Long Bones
• Small Pinched Nose
• Absent or Sparse Eyebrows
• Expressionless Facies
• Ribbon-like Ribs
• Thin Dysplastic Bipartite Clavicles
• Anterioposterior Diameter of Thorax Increased
• Possibly Neurologic Dysfunction after Delayed Diagnosis
• Untreated Neutropenia Facilitates Severe Infections