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39801 to 39900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Absence of Emerin by Immunohistochemistry on Muscle Biopsy