34501 to 34600 most common queries

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

• Large Ischium
• Small Ilia
• Craniosynostosis of Coronal Lambdoid and/or Metopic Sutures
• Thin, Long, Pointed Nose
• Plagiocephaly (Orbital Asymmetry)
• Long and Prominent Ear Crus
• High, Flat Forehead
• Laryngo-, Tracheo-, Bronchomalacia
• Brachymesophalangy of Hands and Feet
• Partial Syndactyly of Fingers and Toes
• Craniosynostosis - Coronal with or without Sagittal Suture
• Epiphyseal Stippling Is Gone by 8 Months of Age
• Dorsal Hand Wrinkling
• Small Vertebrae
• Dimpled Nasal Tip
• Blue Eyes
• Prenatal-Onset Mild to Moderate Growth Retardation
• Brachymelic Dwarfism (Upper Limbs Greater than Lower Limbs)
• Thick Straight Hair
• Curved Nails
• Short Distal Digit
• Pseudoclubbing
• Long, Bowed Fibulae
• Progressive Basilar Impression
• Sella Turcica Elongated
• Thickened Skull Vault
• Failure of Suture Ossification
• Round, Yellow-Brown DHA Crystals in Urine
• 2,8-Dihydroxyadenine Urinary Stones
• APRT Deficiency as Measured in Erythrocyte Lysate
• Treatment: PEG-ADA, Bone Marrow Transplantation, and/or Gene Therapy
• 85-90% with Manifestations in First Months of Life
• Late-Onset Combined Immunodeficiency with Allelic Variant
• Mutation in the Adenosine Deaminase Gene
• 2'-Deoxyadenosine Increased
• Adenosine Levels Elevated
• CD4+ : CD8+ Ratio Often Reversed
• IgG2 Subclass Absent
• IgM Levels Low or Absent
• IgA Low or Absent
• Erythrocyte Adenosine Deaminase Activity Reduced
• Thick Growth Arrest Lines
• Pelvic Dysplasia
• Absent Specific Antibody Response
• Absent or Small, Dysplastic Thymus
• Absent or Reduced CD3+ Cells
• Absent T Cells
• Frequent Fungal Viral and Opportunistic Infections
• Allelic Disorder to Split-Hand-Foot Malformation Type 4
• Allelic to Rapp-Hodgkin Syndrome
• Allelic Disorder to Limb-Mammary Syndrome (LMS)
• Caused by Mutation in the Tumor Protein p73-Like Gene
• Premature Scalp Hair Loss
• Premature Loss of Secondary Teeth
• Alacrima/Hypolacrimation
• Atretic Lacrimal Punctum
• Lacrimal Gland Hypoplasia
• Mutation in the MITF Gene
• White Blonde Hair
• No Heterochromia Irides
• Bilateral Congenital Profound Sensorineural Hearing Loss
• Mutation in the G Protein Alpha Stimulating Polypeptide 1 Gene
• Short Metacarpals (Especially 4th and 5th)
• Variable Phenotypic Expression
• Fusion of the CYP11B1 Gene
• Hypertension - Suppressible by Glucocorticoid Treatment
• 18-Hydroxycortisol Increased
• 18-Oxocortisol Increased
• Potassium Normal or Decreased
• Alpha-2 Macroglobulin Levels Decreased
• Favorable Response to Flunarizine
• Onset before 18 Months of Age
• Upward Eye Deviation during Episodes
• Headache is Usually Not a Symptom
• Neurologic Regression after Prolonged Episodes
• Autonomic Involvement Affecting Limbs during Episodes
• Episodic Hemiplegia
• Neurofibrillary Tangles Composed of Disordered Microtubules
• Xerosis (Buttocks and Extensor Surfaces of Extremities)
• Delayed Second Dentition
• Yellow-Brown Discoloration of the Teeth
• Hypocalicifed Hypoplastic Enamel
• Icelandic Families
• Death before Age 40
• Onset 3rd to 4th Decade of Life
• Mutations in the Cystatin C Gene
• Cerebrospinal Fluid Cystatin C Decreased
• Premature Stroke
• Mutation in the Transthyretin Gene
• Amyloid Deposition in the Vitreous Humor
• Amyloid Deposition in Leptomeningeal Vessels, Brain Stem, Spinal Cord
• Approximately 10% of ALS Cases Are Familial
• Susceptibility Conferred by Mutation in the Dynactin 1 Gene
• Susceptibility Conferred by Mutation in the Peripherin Gene
• Susceptibility Conferred by Mutation in the NEFH Gene
• Reduced Cytosolic Superoxide Dismutase 1 (SOD1)
• Pseudobulbar Palsy - e.g. Involuntary Weeping or Laughter
• Upper and Lower Neuron Manifestations
• Ocular Motility Spared
• 2-3% due to Imprinting Defects