32401 to 32500 most common queries

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

• Hirsutism (Back and Legs)
• Vertical Striations of Metaphyses
• High, Narrow Palate (50%)
• Bulbous Nasal Tip (95%)
• Pear-Shaped Nose (82%)
• Ptosis (50%)
• Upslanted Palpebral Fissures (68%)
• Pale Irides (45%)
• Large, Prominent Ears (59%)
• Broad Chin
• Long Face (74%)
• All Cases Are De Novo
• Nasal Speech (50%)
• Heart Defects (27%)
• Abnormal Hair Texture
• Abnormal Hair Pigmentation (55%)
• Pectus Excavatum (23%)
• Positional Foot Deformity (27%)
• Long, Slender Fingers (61%)
• Slender Lower Limbs
• Duplex Renal System
• Kidney - Urologic Anomalies
• Friendly Behavior (89%)
• Ventriculomegaly (38%)
• Caused by Mutation in the Desmocollin 2 Gene (DSC2)
• Weakness and Wasting of the Lower Limbs
• Small Onion Bulb Formation
• Abnormal Folding of the Myelin Sheath
• Loss of Myelin
• Sural Nerve Biopsy Shows Decrease in Myelinated Fibers
• Progressive Cerebral White Matter Atrophy
• Loss of Ability to Walk Later
• Developmental Delay (Apparent after the First Year of Life)
• Michel Aplasia
• Microtia Type 1
• Mutation in the Fibroblast Growth Factor 3 Gene
• Skin Tags on the Upper Part of the Auricle
• Pontocerebellar Arachnoid Cyst
• Stenosis of the Jugular Foramen
• Gross Motor Skill Delay (Infancy)
• Neutrophil Maturation in Bone Marrow Intact
• Peripheral Neutrophil Counts Low
• Cytotoxic Activity of CD8+ T Cells Decreased
• IgG Decreased in Adolescence (in 2/4 Patients)
• Percentage of IgD+ IgM+ CD27+ Memory B Cells Decreased
• Percentage of Naive IgD+ IgM+ CD27+ B Cells Increased
• Total Number of CD19+ B Cells Increased
• Thick Fleshy Lips
• Wide, Open Mouth
• Downturned Pointed Nasal Tip
• Beaked Nasal Bridge
• Fleshy Ears
• High Cheekbones
• Protruding Lower Face
• Happy Personality
• Atrophy of the Frontal and Parietal Cortex
• Agenesis or Hypoplasia of the Corpus Callosum
• Ventricular Asymmetry
• Bulging of the Caudate Nuclei
• Unstable Ataxic Gait
• Limited Walking Abilities
• Poor or Absent Speech Development
• Normal Sclerae
• Alkaline Phosphatase Increased during Hyperplastic Callus Formation
• Metaphyseal Bands Adjacent to Growth Plate
• Hyperplastic Callus
• Calcified Interosseous Membrane - Forearms
• Anterior Radial Head Dislocation
• White to Faintly Blue Sclera
• Severe Ambulatory Restriction
• Onset of Fractures at Age 4-18 Months
• No Easy Bruisability
• Short Stature in Childhood
• Long Bone Deformity
• Bowed Extremities
• Bulbous Metaphyses
• Osteoid Volume Increased
• Fish Scale-Pattern of Lamellae
• Protrusio Acetabuli
• Unilateral or Bilateral Coxa Vara
• Vertebral Compression Fractures
• Bone Mineral Density Reduced
• Moderately Deforming Osteogenesis Imperfecta
• Lack of Treatment Results in Early Death
• Mutation in the PSAT1 Gene
• Cerebrospinal Fluid Glycine Decreased
• Cerebrospinal Fluid Serine Decreased
• Glycine Decreased
• Serine Decreased
• Generalized Brain Atrophy
• Jerky Movements
• Mutation in the Radixin Gene
• Symptoms Often Decrease or Remit with Age
• Favorable Response to Anticonvulsants
• Sensory Aura May Occur
• Frequency of 1 to 20 Episodes Per Day
• Episodes Last up to 2 Minutes
• Episodic Choreic Movements
• Absence of Foveal Pit
• Cone Responses Decreased (ERG)