Cole Carpenter Syndrome

Definition

Symptoms

1. Growth retardation
2. Obesity
3. Delayed intellectual performance
4. Low I Q
5. Brachycephaly
6. Premature closing of coronal sutures
7. Premature closing of sagittal sutures
8. Premature closing of lambdoid sutures
9. Shallow supraorbital ridges
10. Flat nasal bridge
11. Lateral displacement of inner canthi
12. Inner canthal folds
13. Corneal opacity
14. Maldeveloped cornea
15. Small corneas
16. Optic atrophy
17. Blurred eye disk margins
18. Low-set ears
19. Malformed ears
20. Hypoplastic mandible
21. Hypoplastic maxilla
22. Narrow palate
23. Highly arched palate
24. Brachydactyly of hands
25. Clinodactyly
26. Partial syndactyly
27. Camptodactyly
28. Single flexion crease in fingers
29. Subluxation at distal interphalangeal joints of fingers
30. Angulation deformities at knees
31. Preaxial polydactyly of the feet
32. Partial syndactyly of the feet
33. Short middle phalanges of fingers
34. Missing middle phalanges of fingers
35. Short middle phalanges of toes
36. Missing middle phalanges of toes
37. Cardiovascular defects
38. Ventricular septal defect
39. Atrial septal defect
40. Patent ductus arteriosus
41. Pulmonic stenosis
42. Tetralogy of Fallot
43. Transposition of great vessels
44. Hypogenitalism
45. Undescended testes
46. Umbilical hernia
47. Omphalocele

Causes

Diagnosis

Treatment

Prognosis

Prevention