Genetic Consultations in the Newborn

Common issues in the newborn 1. Hypotonia 2. Intrauterine growth retardation 3. Overgrowth 4. Twins 5. Non-Immune hydrops 6. Teratogenic agents Cardiovascular System 7. Cardiac defects 8. Heterotaxy Craniofacial Sysyem 9. Ear anomalies 10. Eye anomalies 11. Cleft lip 12. Cleft palate 13. Craniosynostoses Central Nervous System 14. Macrocephaly 15. Microcephaly 16. Cerebellar malformations 17. Holoprosencephaly 18. Hydrocephalus 19. Neural tube defects 20. Perinatal stroke Gastrointestinal System 21. Diaphragmatic hernia 22. Gastroschisis 23. Omphalocele 24. Anorectal malformations 25. Hirschsprung disease Genitourinary System 26. Renal anomalies 27. Hypospadias Skeletal System Limbs 28. Arthrogryposis 29. Club foot 30. Upper extremity anomalies 31. Lower extremity anomalies 32. Polydactyly 33. Syndactyly Skeletal Dysplasias 34. Skeletal dysplasias: Overview 35. Skeletal dysplasias: Life limiting 36. Skeletal dysplasias: Viable 37. Fractures Skin System 38. Skin: Ectodermal dysplasias 39. Skin: Epidermolysis bullosa 40. Skin: Ichthyoses 41. Skin: Vascular malformations 42. Skin: Other disorders Syndromes that commonly present in the newborn 1s. Trisomy 21 2s. Trisomy 18 3s. Trisomy 13 4s. Turner syndrome 5s. Wolf-Hirschhorn syndrome 6s. Chr 5p minus syndrome 7s. Deletion Chr 22q11.2 8s. Achondroplasia 9s. Beckwith Wiedemann syndrome 10s. CHARGE syndrome 11s. Cornelia de Lange syndrome 12s. Diabetic Embryopathy 13s. Fetal Alcohol Spectrum disorder 14s. Incontinentia pigmenti 15s. Prader Willi syndrome 16s. Noonan syndrome 17s. Smith Lemli Opitz syndrome 18s. VATER/VACTERL association 19s. Williams syndrome