Paeds Syndromes

  1. Patau syndrome
    • trisomy 13; congenital heart defects, deafness, rocker-bottom feet and severe learning disabilities.
    •  intrauterine growth retardation with facial clefts, ocular anomalies, and polydactyly.
  2. Edward's Syndrome
    • low serum alpha-fetoprotein (AFP), unconjugated oestriol and hCG on amnio
    •  trisomy 18.  intrauterine growth restriction and a single umbilical artery.
  3. Angelman syndrome
    Deletaion of maternal 15q12= Happy puppet. delayed speech, ataxia with a broad based gait, epilepsy. Strange affect characterised by inappropriate laughter.
  4. Prader-Willi syndrome 
    • Deletion of paternal 15q12
    • mental retardation and hyperphagia
  5. Noonan syndrome
    • 12q24.1 defect
    • Pulmonary stenosis
    • Delayed puberty, short stature
  6. Williams Syndrome
    Pulmonary stenosis
  7. Marfarn's syndrome
    autosomal dominant, in about 25% it is the result of spontaneous mutations; anterior subluxation of the lens is a feature.
  8. Di George
    • 4th branchial arch
    • 22q11.2
    • facial hypoplasia
    • thymic hyoplasia=decreased t cell number and function
    • parathyroid hypoplasia= hypocalcaemic tetany
  9. Beckwith-Wiedemann syndrome
    • Macrosomia
    • Macroglossia
    • Visceromegaly
    • Omphalocoele
    • Transverse creases on the ear lobes.
  10. Potter's syndrome
    Results from renal agenesis. Classical features include:

    • Pulmonary hypoplasia
    • Limb contractures
    • Typical facies with the baby having low set ears, flattened nose and epicanthic folds
    • clubbed feet
  11. Bloom's syndrome
    photosensitivity and an increased risk of malignancy.
  12. Lowe's syndrome
    • oculocerebrorenal syndrome; X linked:
    • -Severe learning difficulties
    • -Cataracts 
    • -Glaucoma
    • -renal tubulopathy.
  13. Fragile X
    • Large ears and big testicles
    • Prognathism
    • The face is typically long and narrow, with a high arched palate
    • In children: motor and speech delays and funny sounds hyperactivity
  14. PKU
    • Diagnosis of classic PKU requires:
    • -Raised phenylalanine (Phe) levels
    • -Normal plasma tyrosine levels
    • -Increased urinary Phe metabolites 
    • -Normal cofactor (tetrahydrobiopterin) concentrations.
  15. PKU
    Phenylalanine hydroxylase deficinency (#12)
Card Set
Paeds Syndromes
paeds syndromes