Genetic and Metabolic Disorders — Flashcards

Lowe syndrome, also known as oculocerebrorenal syndrome, presents with _____ lenticonus, hypotonia and renal disease

VATER syndrome is characterised by:V_____, Anal atresia, , Tracheoesophageal fistula, Esophageal atresia, and Renal agenesis

The symptoms of _____ syndrome may be remembered with the mnemonic 'HGPRT':H: HyperuricemiaG: GoutP: Pissed off (aggression, self-mutilation)R: Retardation (intellectual disability)T: dysTonia

The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____A: Abnormal faciesT: Thymic aplasia C: Conotruncal abnormalities (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch) H: Hypocalcemia (lack of parathyroids)

_____ is a metabolic disorder that may present with marfanoid habitus, however with lens dislocation that subluxes down and in

_____ anemia is associated with short stature, caf au lait spots, and malformed forearms and/or thumbs

Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

_____ presents in children as failure to thrive, developmental delay, and megaloblastic anemia refractory to folate and B12

What are the systemic features of Goldenhar syndrome? (mph/mCH)H: _____M: Macrostomia and microtiaP: Preauricular and facial skin tagsH: Hemivertebrae (usually cervical)M: Mental handicapC: Cardiac, renal, and central nervous system (CNS) anomalies.

Renal hamartomas (_____ syndrome/fetal gigantism) is a fetal overgrowth disorder, characterized by polyhydromnios and an increased risk for Wilm's tumor at an early age.