Reticular dysgenesis in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal Epidemiology – How common is Reticular dysgenesis? What are the symptoms of Reticular dysgenesis? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes this condition? Differential diagnosis Antenatal diagnosis Genetic counseling Management and treatment – How is …
De Morsier syndrome in short Synonyms Prevalence: Unknown Inheritance: Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable Age of onset: Antenatal, Infancy, Neonatal How common is De Morsier syndrome? Incidence is estimated at 1/10,000 live births. What are the symptoms of De Morsier syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description Severity of the condition varies widely, …
DESC syndrome in short Synonyms Age of onset: All ages How common is DESC syndrome? What are the symptoms of DESC syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes this condition? How is DESC syndrome diagnosed? Differential diagnosis Management and treatment – How is DESC syndrome condition treated? What is the prognosis …
Alazami syndrome in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal What are the symptoms of Alazami syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description Alazami syndrome is a rare genetic developmental disorder characterized by a range of features including mild to severe short stature, head circumference below …
What is Chronic actinic dermatitis? Synonyms Prevalence: 1-5 / 10 000 Age of onset: Adult What are the symptoms of chronic actinic dermatitis? Very frequent symptoms Frequent symptoms Occasional symptoms Very rare symptoms
Incontinentia Pigmenti – Introduction Synonyms Epidemiology Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathogenesis Molecular Genetics Clinical Pathogenesis History and Physical Clinical Presentation History Family History (FH) Physical General Physical Skin HEENT Chest Extremities Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Biopsy and Pathology Genetic Testing Management Management Overview Activity …
Gitelman Syndrome – 12 Interesting Facts Introduction Background Information Etiology and Risk Factors Etiology Diagnosis Approach to Diagnosis Staging or Classification Workup History Physical Examination Laboratory Tests Table Table 1. Preliminary workup in patient with suspected Gitelman syndrome Specimen or Test Expected Result Blood Basic metabolic panel (Na, K, Cl, bicarbonate, BUN, creatinine, glucose) Hyponatremia or …