33901 to 34000 most common queries

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

• Twisted and Partial Breaks on Magnification
• Steely, Kinky, Sparse Hair
• 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
• Short, Thin Upper Lip
• Hyperfolded Ears
• Gut Dysmotility
• Mild Obesity
• Fingers in Mouth
• Repetitive Self Stimulatory Behavior Using Upper Limbs
• Hypertonia of Lower Limbs (Later)
• Severe Profound Mental Retardation
• Carrier Females Are Normal
• Mutation in the SMS Gene
• 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
• 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
• 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
• Myopathy with Type 1 Fiber Atrophy on Muscle Biopsy
• Atrial Abnormalities on Electrocardiogram
• Tendency to Walk on Toes
• Usually Fatal in Infancy
• Severe Muscular Hypotonia
• No Cardiac Involvement
• No Muscle Fiber Necrosis
• Vacuolated Muscle Fibers Show Reduplication of the Basement Membrane
• Perisarcolemmal Calcium Deposition Increased
• Myotonic Discharges in the Absence of Clinical Myotonia (EMG)
• Some Patients Become Wheelchair-Bound
• Muscle Atrophy Later in Disease Course
• Asymptomatic Proteinuria or Hypercalciuria in Female Carriers
• Phenotype of Variable Severity
• Mutation in the Chloride Channel 5 Gene
• Possible Autosomal Dominant and Autosomal Recessive Forms
• Upper Limbs May Be Affected
• Onset of Motor Disturbances in Childhood
• Lethal in Males
• Dry, Rough, Sparse Hair
• Milia of Upper Face and Ears in Infancy
• Abnormalities of the Toes (25%)
• Anomalous Anterior Teeth
• Tongue Hamartoma (70%)
• Bifid Tongue (30-45%)
• Pseudocleft of the Upper Lip
• Median Cleft Lip
• Buccal Frenuli
• Hyperplastic Oral Frenuli
• Adult-Onset Polycystic Kidney (50%)
• Central Nervous System Malformations (40%)
• Two Types: Lethal Neonatal and Less Severe Late-Onset
• Hepatic Ornithine Transcarbamylase Deficiency
• Plasma Citrulline Low
• Melnick Needles Syndrome Is an Allelic Disorder
• Frontometaphyseal Dysplasia Is an Allelic Disorder
• Complete Manifestation in Males
• Intermediate Expression in Females
• Mutations in the FLNA Gene
• Short, Square Fingernails
• 'Tree Frog' Feet
• Anomalous Fifth Metatarsal
• Short Broad Halluces
• Short Square Nails
• Mild Lateral Femoral Bowing
• Small Iliac Crests
• Small Pedicles
• Dense Middle Ear Ossicles
• Short Stature < 10th Percentile for Age
• Mutations in the Properdin P Factor Gene
• Dysfunctional Alternative Complement Pathway
• Deficiency of Properdin P Factor
• Spastic Paraplegia Type 2 Is an Allelic Disorder
• Nystagmus May Disappear by Mid Childhood
• Absent Myelination of the Brain
• Rotary Head Movements - 'Rolling Tremor'
• A Subset of Patients May Have Normal Levels of Blood Lactate
• A Subset of Patients May Have Subtle Increases in Blood Lactate
• Chronic Lactic Acidosis