35001 to 35100 most common queries

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

• Male to Female Ratio 7 : 1
• Vascular Stasis
• Hyperhidrosis - Hands and Feet
• Progressive Cutis Verticis Gyrata
• Redundant Palmar Skin
• Coarse, Thick and Furrowed Forehead Skin
• Mutation in the Septin 9 Gene
• Long Nasal Bridge
• Denervation in Affected Limb (EMG)
• Number of Episodes Varies from 1 to Many
• Allelic Disorder to NF1
• Spinal Tumors Required for Diagnosis
• Mutation in the NF1 Gene
• Freckling May or May Not Be Present
• Cafe-Au-Lait Spots May or May Not Be Present
• Neurofibromas May or May Not Be Present
• Possibly Lisch Nodules
• For Similar Autosomal Recessive Form See CLN4
• Possibly Parkinsonism
• Onset in Second to Fourth Decade of Life
• Painless Distal Ulcers due to Sensory Neuropathy
• Numbers of Small Myelinated and Unmyelinated Fibers Decreased
• Dorsal Spinal Columns Are Diminished in Size
• EMG Shows Chronic Axonal Neuropathy
• Distal Areflexia
• Distal Hyporeflexia
• Distal Limb Muscular Weakness due to Peripheral Neuropathy
• Distal Limb Muscular Atrophy due to Peripheral Neuropathy
• Sharp 'Lightning'-Like Pain
• Taste is Spared
• Precipitated by Mechanical Compression or Pressure on Nerve
• Mutation in the Gene Encoding Peripheral Myelin Protein 22
• Tomacula On Nerve Biopsy
• Vocal Cord Paralysis Has Been Reported
• Radial Ulnar and Median Nerve Muscles May be Affected
• Linear Nevus Sebaceous - Often in Midfacial Area
• Coloboma of Eyelids, Iris and Choroid
• Relative Overgrowth of Fibula
• Rhomboidal Shape of Tibiae and Fibulae
• Lower Leg Mesomelia
• Normal Face
• See Also Autosomal Recessive Sick Sinus Syndrome
• Possibly Atrial Fibrillation
• Vertebral Abnormalities
• High Peaks of Upper Lip Vermilion Border
• Blue Green Irides
• Triangular Face with Age
• Male Infertility in Individuals with Bilateral Cryptorchidism
• Occasional Hypogonadism
• Guanosine Levels High
• Inosine Increased
• Erythrocyte Purine Nucleoside Phosphorylase Activity Reduced
• Defective Antibody Production
• Abnormal B-Cell Function
• Markedly Depressed T Lymphocyte Proportion
• Depletion of Lymphoid Tissues
• Small Lymph Nodes Which Lack Paracortical Regions
• Frequent Bacterial, Viral, and Opportunistic Infections
• Varying Degree of Mental Retardation
• Features May be Bilateral (15/24) or Left Side (9/24)
• All Cases Sporadic
• Punch-Like Skin Defects
• Focal Dermal Aplasia or Hypoplasia
• Rib Dysplasia
• Small Nares
• Mutations in the MYCN Oncogene
• Syndactyly of Toes 2-3 and 4-5
• Middle Phalanx of 5th Finger Hypoplastic or Absent
• Carrier Frequency 1:700 in Bukhara Jewish Populations
• No Ragged Red Fibers
• Abnormal Aggregation of Mitochondria
• Muscle Biopsy Shows Intranuclear Tubulofilamentous Inclusions
• Decreased Distal Reflexes
• Distal Limb Muscle Weakness
• Gait Abnormalities (Occur Later)
• Proximal Limb Muscle Weakness (Occurs Later)
• Extraocular Movements May Be Mildly Decreased
• Progressive Ptosis
• Mean Age at Onset 32 Years
• Caused by Mutations in the Ataxin 7 Gene (SCA7)
• Decreased Mobility 3rd - 5th Fingers
• Ulnar-Deviated Club Hands
• Absent Radial Heads
• Aplasia of Lateral Humeral Condyle
• Absent Coronoid Process
• Nerve Conduction Velocities Normal or Mildly Decreased
• See Also Optic Atrophy with Deafness - an Allelic Disorder
• Bimodal Onset in Early Childhood
• Caused by Mutation in the OPA1 Gene
• Pattern Visual Evoked Potentials Show Reduced Amplitude
• Fractures Often Heal without Deformity
• Fracture Frequency Constant through Childhood, Decreases after Puberty
• Onset of Fracture Usually when Child Begins to Walk
• Mild Joint Hypermobility
• Occasional Femoral Bowing
• Height Often Shorter than Unaffected Family Members
• Normal to near Normal Stature
• Detection in Second Trimester of Pregnancy (Ultrasound)
• Gonadal and Somatic Mosaicism Reported in Parent
• Rarely Survival for Longer than One Year