UDNI tip2toe Questionnaire

UDNI tip2toe Questionnaire Help

Connecting to API..

1. Overview 2. Individual 3. Photographs 4. Pedigree 5. Family history 6. Growth Chart 7. Radiology - imaging 8. Previous genetic investigations 9. Other Laboratory results 10. Parents summary 11. Clinical findings 12. Pregnancy 13. Delivery 14. Neonatal period complications 15. Growth at birth 16. Post-natal growth 17. Facial morphology 18. Eyes 19. Mouth/teeth 20. Nose 21. Ears 22. Central nervous system 23. Cognition 24. Behavioral abnormality 25. Speech 26. Seizures 27. Muscles 28. Skeleton 29. Head and neck 30. Trunk 31. Upper limbs 32. Hands, fingers, and thumbs 33. Lower limbs 34. Feet/toes 35. Airways 36. Heart/great vessels 37. Kidneys and urinary tract 38. Genitalia 39. Liver and spleen 40. Skin 41. Hair/nails 42. Endocrine/metabolic 43. Connective tissue 44. Immune system/blood 45. Gastrointestinal 46. Cancer/malignancy /benign tumor 47. Summary

Hands, fingers, and thumbs

Single transverse palmar crease

HP:0000954

Yes No Not investigated

Preaxial hand polydactyly

HP:0001177

Yes No Not investigated

Postaxial hand polydactyly

HP:0100259

Yes No Not investigated

Brachydactyly

HP:0001156

Yes No Not investigated

Long fingers (Arachnodactyly)

HP:0100807

Yes No Not investigated

Cleft hand (Ectrodactyly)

HP:0100257

Yes No Not investigated

Aplasia/Hypoplasia of fingers

HP:0006265

Yes No Not investigated

Aplasia/Hypoplasia of thumb

HP:0009601

Yes No Not investigated

Broad thumb

HP:0011304

Yes No Not investigated

Syndactyly

HP:0001159

Yes No Not investigated

Macrodactyly

HP:0004099

Yes No Not investigated

Overlapping fingers

HP:0010557

Yes No Not investigated

Prominent fingertip pads

HP:0001212

Yes No Not investigated

Other. Describe in Clinical summary and/or add HPO terms here

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