39801 to 39900 most common queries

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

• Ipsilateral Thyroid Gland Hypoplasia
• Pneumocystis Carinii Infection
• Chronic or Cyclic Neutropenia
• Normal B Cell Count
• Mutations in the IKBKG Gene
• Thin Sparse Hair
• Wiry Coarse Hair
• Atrophic Patchy Alopecia
• Subungual Keratotic Tumors
• Most Evident on Lower Legs
• Stage 4 Skin Pallor Atrophy and Scarring
• Fades in Adolescence
• Streaks and Whorls
• Follows Blaschko's Lines
• Primarily Affects Trunk
• Skin Hyperpigmentation Stage 3
• Affects Distal Limb and Scalp
• Stage 2: Skin Papules, Verrucous Lesions, Hyperkeratosis
• Occurs in Linear Distribution
• Affects Limbs and Trunk
• Onset Birth-Newborn Period
• Stage 1 - Skin Erythema, Vesicles, Pustules
• Leukocytosis with Eosinophilia during Stage 1
• Lesions in Basal Ganglia, Brainstem, Cerebellum, Thalamus, Spinal Cord
• Caused by Mutation in the Chloride Channel 5 Gene
• Renal Biopsy Shows Focal Tubular Atrophy
• Caused by Mutations in the OCRL1 Gene (OCRL1)
• Sebaceous Cysts - Buttocks and Perineum
• Abnormal Serum Protein Electrophoresis
• Total Protein Elevated
• Acid Phosphatase Increased
• Flexion Contractures of the Digits
• Dense Posterior Cortical Cataract
• Fine Lens Opacities
• Stereotypic Behaviors (Tantrums, Aggressiveness)
• Otopalatodigital Syndrome Type 2 Is an Allelic Disorder
• Otopalatodigital Syndrome Type 1 - OPD1 - Is an Allelic Disorder
• Affected Males Who Survive Are Secondary to New Mutations
• Fifty Percent of Cases Secondary to New Mutations
• Non-Compaction of Ventricular Myocardium
• Skin Hyperlaxity
• Frontal Hirsutism
• Hypoplastic Distal Phalanx
• Iliac Flaring
• Anteriorly Concave Thoracic Vertebrae
• Tall Vertebrae
• Paranasal Sinus Development Delayed
• Dense Skull Base
• Hypoplastic Coronoid Process
• Small Mandible with Obtuse Angle
• Prominent Hirsute Forehead
• Short to Normal Stature
• Irregular, Ribbon-Like Ribs
• Twisted and Partial Breaks on Magnification
• Steely, Kinky, Sparse Hair
• Copper and Ceruloplasmin Decreased
• Metaphyseal Widening with Spurs
• Pudgy Cheeks
• Symptomatic if > 200 Repeats
• Folate-Dependent Fragile Site at Xq28
• Postpubertal Macroorchidism
• Caused by Mutations in the Helicase 2 Gene
• Absence of Hb H Inclusions in Red Blood Cells
• Clinodactyly of Isolated Digits
• Slender, Tapering Fingers
• Tented Upper Lip Vermilion
• Short, Thin Upper Lip
• Hyperfolded Ears
• Small Philtrum
• Narrow Forehead
• Gut Dysmotility
• Mild Obesity
• Self-Absorbed
• Fingers in Mouth
• Repetitive Self Stimulatory Behavior Using Upper Limbs
• Hypertonia of Lower Limbs (Later)
• Carrier Females Are Normal
• Mutation in the SMS Gene
• Skin Dimple on Lower Back
• Double Row Lower Incisors
• 11 Rib Pairs
• Caused by Mutation in the Holocytochrome C Synthase Gene
• Asymmetric Linear Skin Defects (Anterior Face and Neck)
• Short Stature (3rd-10th Percentile)
• Prenatal Diagnosis Available
• Survival to 20s - 60s in IIB
• Death before Age 15 in Type 2A
• Two Forms - 2A severe and 2B mild
• Onset 2-4 Years of Age in 2A
• Dermatan and Heparan Sulfate Excretion in Urine
• Mucoid Nasal Discharge
• No Corneal Opacities
• Adult Height: 120-150 cm
• Normal Intelligence in Type 2B
• Neurodegeneration Leading to Profound Mental Retardation
• Usually Onset at Age <6 Years and Death by Age 20 Years
• Pulmonary Hypoventilation
• Dystrophin Absent on Muscle Biopsy
• Risk of Sudden Death due to Cardiac Defects
• Absence of Muscle Pseudohypertrophy