Sitemap | Symptoma

40901 to 41000 most common queries

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

Caused by Mutation in the Forkhead Box C2 Gene Spinal Extradural Cysts May Occur Lymphography Shows Increased Number of Dilated Lymphatic Vessels Cellulitis or Infection May Occur Onset Earlier in Males than Females Lymphedema, Predominantly in Lower Limbs Accessory Eyelashes Tan Macules on Glans Penis and Penile Shaft Prominent Corneal Nerves Ileal Hamartomatous Polyps Birthweight Greater than 4 kg Thickened Corpus Callosum Mutation in the MYH9 Gene Mean Platelet Volume 20 fl Partial to Total Absence of Eyelashes Partial or Total Absence of Lower Eyelashes Duplicated Calyx About 25% of Cases due to De Novo Mutations Rare Aneurysm of Other Aortic Segments Emphysema in Most Severe Presentation Fibrillin-1 Immunostaining in the Dermis Decreased Long, Narrow Feet Long Bone Overgrowth Lumbosacral Dural Ectasia Thoracic Lordosis Early Cataracts Early Glaucoma Corneal Flatness Axial Length of Globe Increased Arm Span to Height > 1.05 Mean Adult Height 175.4 +- 8.2 cm for Females Mean Adult Height 191.3 +- 9 cm for Males Mean Length at Birth 52.5 +- 3.5 cm for Females Mean Male Length at Birth: 53±4.4 cm Pectus - Asymmetric Sternum Long Arm Span Outward Ulnar Bowing Outward Radial Bowing Small, Irregular Proximal Tibial Epiphyses Small Irregular Distal Femoral Epiphyses Calcifications of Falx, Tentorium and Meninges Long Maxillary Central Incisors Short, Depressed Nose Granulomatous Lymphangitis (Eyelid Biopsy) Periorbital Heterogeneous Thickening on CT Scan Insidious Painless Nonpitting Eyelid Edema Parathyroid Hormone-Related Peptide Low to Absent Parathyroid Hormone Absent to Low Calcitriol Increased Urinary Excretion of cAMP Increased Short, Clubbed Fingers Short, Mildly Broad Diaphyses Markedly Expanded Cup Shaped Metaphyses in Infancy Bowing of Long Bones, Especially Lower Limb Mandibular Cyst Mild Frontonasal Hyperplasia in Adult Average Adult Height 125 cm Postnatal-Onset Severely Short Stature Spinal Involvement Improves with Age Hand Involvement Improves with Age Leg Pain during Childhood Waddling Gait Often Presenting Sign in Second Year Mutation in the Collagen X Alpha 1 Polypeptide Gene Short, Broad Middle Phalanges Metaphyseal Abnormalities of Distal Radius and Ulna Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Metaphyseal Abnormalities of Distal and Proximal Femurs Tibial Bowing Especially at Ankle No Osteoarthritic Symptoms Adult Height 130-160 cm Parental Somatic Mosaicism May Produce Mild Phenotype Keratan Sulfaturia in Some Patients Abnormal Cartilage Collagen On EM Flattened Squared-Off Epiphyses of Tubular Bones Epiphyseal Ossification Delayed Splayed Epiphyses and Metaphyses Short Dumbbell Appearance of Long Bones Occipitoatlantal Instability Coronal Cleft of Vertebrae Final Adult Height: 106-145 cm Terminal Transverse Defects of Humerus Hyposplenia Fusion of the Left and Right Thalami POLG Mutations Account for Approximately 45% of All PEO Cases Hypogonadism Reported in a Large Swedish Kindred Mutations in the DNA Polymerase Gamma Gene Rhabdomyolysis in Response to Alcohol Cataracts (Late Symptom) Gastrointestinal Pseudoobstruction Distal Loss of Proprioception and Vibration Sense Loss of Pigmented Neurons in the Substantia Nigra Secondary Sexual Characteristics Decreased Premature Menopause May Occur Cormorbidly with Poland Syndrome Nasal Dysarthria Respiratory Difficulties in Infancy Low Set Thumbs Hand Deformities (61%) Lower Limb Deformities Hip Defects