26701 to 26800 most common queries

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

• Severe Metatarsus Adductus
• Short Forth Metacarpal
• Pseudoepiphyses - Middle Phalanges
• Camptodactyly (Progressive)
• Absent Distal Flexion Creases
• Hyperextensible Elbows
• Prominent Deltoid Insertion of Humerus
• Extension Decreased - Elbows and Knees
• Degenerative Hip Disease
• Transient Cranial Nerve Palsy
• Phenotypically Indistinguishable from Hemophilia A
• Caused by Mutation in the Coagulation Factor 9 Gene
• Overlapping Clinical Spectrum and Allelic to MASA Syndrome
• Increased Risk of Testicular Cancer
• Most Cases Result from Deletions of the STS Gene
• Symptoms Improve during the Summer
• Onset in Perinatal Period or Within the First Year of Life
• Caused by Mutation in the Steroid Sulfatase Gene
• Lesions Often of Brownish Color
• Sparing of Flexure Areas Palms and Soles
• Steroid Sulfatase Activity Decreased or Absent
• Vision Is Usually Not Affected
• Corneal Opacities on Slit Lamp Examination
• Protracted Delivery
• MRI Shows T2-Weighted Signals in the Basal Ganglia
• Quadriplegic Dyskinesia
• Status Dystonicus
• Classic Severe Form Shows Onset at 2 to 3 Months of Age
• Long, Triangular Face
• Lower Limb Dystonia
• Focal Dystonia, Usually of the Hands
• Female Carriers May Have Cardiac Defects
• Apparently Exocytosis of Material at the Cell Surface
• Allelic Disorder to Androgen Insensitivity Syndrome (AIS)
• Mild Symptoms May Occur in Teenage Years
• Onset Usually between 30 and 50 Years of Age
• Testosterone Decreased or Increased
• Secondary Myopathic Features
• Mild Peripheral Sensory Neuropathy
• Atrophy and Weakness of the Tongue, Jaw and Throat Muscles
• Distal Weakness Occurs Later
• Proximal Weakness Occurs First
• Atrophy and Weakness of Limb Musculature
• Mutation in the Mitochondrial Complex I Subunit ND4 Gene
• Mitochondrial Complex I Activity Decreased
• Onset Usually at Birth but May Occur Later
• Hearing Loss Affects All Frequencies
• Prelingual Sensorineural Hearing Loss
• Phenotypic Overlap with Currarino Syndrome
• Considered to Be a Manifestation of the Caudal Regression Syndrome
• Coccyx Defects
• Anterior Sacral Hemidefect
• Constipation due to Mass Effect of Meningocele
• Urinary Retention due to Mass Effect of Meningocele
• Anterior Sacral Lipoma
• Cysts Tend to Enlarge with Age
• Oromandibular Dyskinesia
• Onset between 7 and 18 Years
• Frequency in the Faroe Islands Increased
• Urine Carnitine Esters Increased
• Serum and Cerebrospinal Fluid Lactate Increased
• Depletion of mtDNA in Skeletal Muscle
• Imaging Shows Signal Abnormalities in Basal Ganglia
• No Mature Hair Follicles (Scalp Biopsy)
• Alopecia of Variable Severity
• Hyperpigmentation in Flexure Areas
• Brain MRI Shows Hypoplastic Pituitary
• Lower Motor Neuron Dysfunction
• Motor Deterioration in Second Decade
• Puberty Absent or Delayed
• Dysplasia of Nasal Bones with Midface Protrusion
• 2 Patients Described
• Translocation of Chromosomes 9 and 13
• Arnold-Chiari I Malformation
• Benign Parathyroid Hyperplasia
• Extinguished Electroretinograms in Second or Third Decade
• Mutation in the PROM1 Gene
• Endolymphatic Hydrops Delayed Onset
• Unilateral Deafness - Childhood Onset
• Highly Penetrant, Low Morbidity
• Early Onset in Some Patients
• Caused by Mutation in the Cardiac Muscle Alpha Actin 1 Gene
• Variable Extent of Hypertrophy in Mutation Carriers
• Mutation in the Cysteine and Glycine Rich Protein 3 Gene
• Concentric Hypertrophy
• Mutation in the NFKBIA Gene
• Light, Sparse Hair
• Sweat Glands Absent
• Defective Production of NFKB1-Dependent Cytokines by Leukocytes
• Low or Normal Serum Immunoglobulins
• Hypoplastic Ears Fused to the Scalp
• See Also Junctional EB with Pyloric Atresia
• Usually Death in Infancy
• Mutation in the PLEC1 Gene
• Absence of Plectin-1 Immunostaining
• Hemidesmosomes May Be Disrupted
• Cleavage within the Lower Part of Basal Keratinocytes
• Variable Age of Onset Ranging from 11 to 50 Years
• Mutation in the DFNA5 Gene
• Duodenal Villous Atrophy