... Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS. Diagnosis/testing. The diagnosis of 22q11.2DS is established ...

... Evaluation Comment 1 Integument Detailed dermatologic examination At diagnosis to evaluate extent of disease & presence of atypical lesions Genitourinary Gynecology consultation Beginning at age 20 yrs or ...

... post-void residual volume more than 200 mL, genitourinary condition that could cause urinary symptoms, recent urogenital surgery or hepatic disease. Not reported/unclear Urge: 100 56.9 (10. ...

... Congenital heart defects Gastrointestinal anomalies including anal ... Establishing the Diagnosis The diagnosis of KS is established in a ...

... abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). ... distal 1.35-Mb 1q21.1 ...

... digestive disorders, neoplasms, musculoskeletal disorders, endocrine disorders, and ... diagnosis. Note: Other includes infections, skin disorders, blood disorders, ...

... when anomalies involving the ulna, lower limbs, kidneys, genitourinary system, vertebrae, ... in the Differential Diagnosis of Holt-Oram Syndrome (HOS) View in own ...

... anterior uveitis) – current or past psoriasis – gastrointestinal or genitourinary ... has signs or symptoms of undiagnosed psoriasis, follow the recommendations in the ...

... Intellectual disability (IQ ≤75) Hamartomatous intestinal polyps Fibrocystic disease of the breast Lipomas Fibromas Genitourinary tumors (especially renal cell carcinoma) Genitourinary malformation Uterine fibroids An operational diagnosis of CS is made if an individual meets ...

... Diagnosis Polydactyly, cognitive impairment, and structural heart and ... 4. Disorders to Consider in the Differential Diagnosis of Alström ...