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38001 to 38100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Lactate/Pyruvate Ratio Increased (Group B)