Genetic and Metabolic Disorders — Flashcards

Flashcard 41: 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

Answer: Lesch-Nyhan

Flashcard 42: 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)

Answer: Cleft palate

Flashcard 43: Lowe syndrome (oculocerebrorenal syndrome) is characterized by _____, hypotonia, and renal Fanconi syndrome.

Answer: congenital cataracts

Extra: Lowe syndrome (oculocerebrorenal syndrome) is an X-linked recessive condition caused by a mutation in the OCRL gene. It is characterized by the triad of congenital cataracts, neonatal hypotonia, and renal Fanconi syndrome.

Flashcard 44: _____ is a metabolic disorder that may present with marfanoid habitus, however with lens dislocation that subluxes down and in

Answer: Homocystinuria

Flashcard 45: VATER syndrome is characterised by: V_____, Anal atresia, Tracheoesophageal fistula, Esophageal atresia, and Renal agenesis

Answer: ertebral anomalies

Flashcard 46: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

Answer: micro

Flashcard 47: _____ anemia is associated with short stature, caf au lait spots, and malformed forearms and/or thumbs

Answer: Fanconi

Flashcard 48: 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.

Answer: Hypoplasia of the malar, maxillary, and mandibular regions

Flashcard 49: _____ syndrome (fetal gigantism) is a fetal overgrowth disorder characterized by renal hamartomas, polyhydramnios, and an increased risk for Wilms tumor at an early age.

Answer: Perlman

Flashcard 50: _____ presents in children as failure to thrive, developmental delay, and megaloblastic anemia refractory to folate and B12

Answer: Orotic aciduria