38001 to 38100 most common queries

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

• Single Flexion Crease Fingers 2, 3 and/or 5
• Darkly Colored Teeth (reddish-Brown)
• Absence of Sulcus Orbitopalpebralis Superior - Upper Eyelid Crease
• Multiple Episodes of Choking in 1st Year of Life
• Birthweight < 10th Percentile
• Sex Ratio - 2.3 Males-to-1 Female
• Malsegmentation
• Medial Cleft Lip and Palate
• Cebocephaly
• Vaginal Septum
• Deep Scrotal Raphe
• Absent Olfactory Tracts and Bulbs
• Often Reared as Females until Puberty
• XY Karyotype
• Male Pubertal Voice Change
• Scanty Pubertal Beard
• 5 Alpha-Reductase 2 Enzyme Deficiency
• Cryptorchid Testes
• No Mullerian Structures
• Wolffian Differentiation
• Blind Perineal Pouch Resembling Vagina
• Testosterone Normal or Increased
• Defective DHT Formation
• Plasma Dihydrotestosterone Is Decreased
• No Breast Development or Menstruation at Puberty
• Masculinization at Puberty
• Clinical Onset within First 2 Years of Life
• 25-Hydroxyvitamin D3 Normal
• 1,25-Dihydroxyvitamin D3 Markedly Decreased or Absent
• See for Description of Heterozygous Phenotype
• Majority of Cases Diagnosed at Age 10-15 Years
• Mutations in the ABCC6 Gene
• Renovascular Hypertension
• Intermittent Claudication (30%)
• Calcifications
• Brown Macules in Reticulate Pattern
• Chronic Granulomatous Nodules
• Acneiform Lesions
• Extrusion of Calcium Deposits
• Lax, Wrinkled Skin
• Yellowish, Flat Plaques
• Progression of Skin Lesions
• Mucosal PXE Lesions (Inner Aspect of Lower Lip, Cheeks, Palate)
• Owl's Eyes (Paired Hyperpigmented Spots)
• Mutation in the SLC34A2 Gene
• Possibly Progressive Fibrosis
• Pulmonary Function Tests Show Restrictive Deficit
• Diffuse Bilateral Medial and Basal Lung Involvement
• Intraalveolar Nodular Calcifications ('Microliths')
• Often Fatal in Utero
• Mild Bronchodysplasia
• Pleural Membrane Thickening
• Interstitial Markings On X-Ray
• Episodic Lymphangitis
• Edema Reoccurs with Infections
• Edema Is Present at Birth and Then Slowly Decreases
• Subcutaneous Generalized Edema
• Mild Growth Retardation
• Mutations in the Cathepsin K Gene
• Flattened Nails
• Wrinkled Skin over Dorsa of Fingers
• Acro-Osteolysis of Distal Phalanges
• Narrow Ilia
• Obtuse Angle of Mandible
• Delayed Suture Closure
• Dense Skull
• Susceptibility to Fracture
• Eruption of Deciduous Teeth Delayed
• Anterior Fontanelle Open in Adults
• Frontal and Occipital Prominence
• Adult Height: <150 cm
• Aplasia of Clavicle
• Abnormal IGFR1 Function
• Number of IGF1 Receptors on Cell Surface Decreased
• Secretion of IGF1 in Response to Growth Hormone Decreased
• Insulin-Like Growth Factor 1 Decreased
• Average Adult Female Height 135 cm
• Average Adult Male Height 142 Cm (4'8")
• Short Stature from Birth
• No Growth Response to Exogenous Growth Hormone
• Patients Are Often Asymptomatic
• Mild Supraorbital Hyperplasia
• Thickened Medial Ends of Clavicle
• Thickened Sternal Ends of Ribs
• Responsive to Pyridoxine
• Prenatal or Neonatal Onset
• Mutation in the ALDH7A1 Gene
• Cerebrospinal Fluid and Serum Levels of Pipecolic Acid Increased
• Abnormal Prenatal Movement
• Delayed Psychomotor Development (Mild to Severe)
• Group C: Relatively Benign
• Group B Patients Die by 3 Months of Age
• Can Be Categorized into 3 Groups
• Possibly Responsive to Thiamine
• Onset at Birth or Early Infancy
• Mutation in the PC Gene
• A Subset of Group B Patients Have Absence of PC Protein and mRNA
• Presence of PC-mRNA
• Immunoreactive PC Protein
• Acetoacetate : Beta-Hydroxybutyrate Ratio Increased