Genetic and Metabolic Disorders — Flashcards

Van der Hoeve syndrome consist of the triad of _____, Otosclerosis and Blue sclera

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency may present in infancy or early childhood with _____, hyperammonemia, lethargy, seizures, coma, and liver dysfunction

The abnormality of _____ syndrome is arterio-hepatic dysplasia

The characteristics of tuberous sclerosis may be remembered with the mnemonic "HAMARTOMAS": H: _____A: Angiofibromas (adenoma sebaceum)M: Mitral regurgitation A: Ash-leaf spots (hypopigmented macule)R: cardiac RhabdomyomaT: Tuberous sclerosisO: autosomal dOminantM: Mental retardation (intellectual disability)A: renal Angiomyolipoma S: Seizures, Shagreen patches

_____ is a metabolic disorder characterized by a musty body odor

Classic galactosemia causes liver damage and renal damage, which manifests as _____, hepatomegaly, and a metabolic acidosis

Rett syndrome symptoms usually become apparent between ages _____ to 4

The findings in Patau Syndrome may be remembered with the 5'Ps- cleft Palate - holoP_____- Polydactyly- aPlasia cutis- Polycystic Kidney disease

Galactokinase deficiency may present as failure to _____ or failure to develop a social smile

The findings in Edwards Syndrome may be remembered with PRINCE Edward: - P_____- Rocker-bottom feet- Intellectual disability- Nondisjunction- Clenched fists with overlapping fingers- low-set Ears