Velo-cardio-facial syndrome

VELO-CARDIO-FACIAL SYNDROME Specialist Fact Sheet
Velo-cardio-facial syndrome (VCFS is caused by a deletion of a small segment of the long arm of chromosome 22. It is one of the most common genetic disorders in humans. The following list shows the anomalies that have been found in VCFS. No features are found in 100% of cases, but all occur with sufficient frequency to warrant assessment. If youhave any questions, or if you would like to learn more about VCFS, you may reach The Velo-Cardio-Facial Syndrome Educational Foundation by telephone at 315-464-6590, by fax at 315-464-5321, or by email at vcfsef@mail.upstate.edu. The Foundation maintains a web site at www.vcfsef.org
Craniofacial/Oral Findings “1. Overt, submucous or occult submucous cleft palate “2. Retrognathia (retruded lowerjaw) “3. Platybasia (flat skull base) “4. Asymmetric crying facies in infancy “5. Structurally asymmetric face “6. Functionally asymmetric face “7. Vertical maxillary excess (long face) “8. Straight facial profile “9. Congenitally missing teeth (one or several) “10. Small teeth “11. Enamel hypoplasia (primary dentition) “12. Hypotonic, flaccid facies “13. Downturned oral commissures “14. Cleft lip(uncommon) “15. Microcephaly “16. Small posterior cranial fossa Eye Findings “17. Tortuous retinal vessels “18. Suborbital congestion ("allergic shiners") “19. Strabismus “20. Narrow palpebral fissures “21. Posterior embryotoxon “22. Small optic disk “23. Prominent corneal nerves “24. Cataract “25. Iris nodules “26. Iris coloboma (uncommon) “27. Retinal coloboma (uncommon) “28. Small eyes “29.Mild orbital hypertelorism “30. Mild vertical orbital dystopia “31. Puffy upper eyelids Ear/Hearing Findings “32. Overfolded helix “33. Attached lobules “34. Protuberant, cup-shaped ears “35. Small ears “36. Mildly asymmetric ears “37. Frequent otitis media “38. Mild conductive hearing loss “39. Sensori-neural hearing loss (often unilateral) “40. Ear tags or pits (uncommon) “41. Narrow external earcanals Nasal Findings “42. “43. “44. “45. “46. Prominent nasal bridge Bulbous nasal tip Mildly separated nasal domes (nasal tip appears bifid) Pinched alar base, narrow nostrils Narrow nasal passages

Cardiac and Thoracic Vascular Findings “47. VSD (Ventricular septal defect) “48. ASD (Atrial septal defect) “49. Pulmonic atresia or stenosis “50. Tetralogy of Fallot “51. Right sided aorta “52.Truncus arteriosus “53. PDA (patent ductus arteriosus) “54. Interrupted aorta, type B “55. Coarctation of the aorta “56. Aortic valve anomalies “57. Aberrant subclavian arteries “58. Vascular ring “59. Anomalous origin of carotid artery “60. Transposition of the great vessles “61. Tricuspid atresia Vascular Anomalies “62. Medially displaced internal carotid arteries “63. Tortuous or kinked internalcarotids “64. Jugular vein anomalies “65. Absence of internal carotid artery (unilateral) “66. Absence of vertebral artery (unilateral) “67. Low bifurcation of common carotid “68. Tortuous or kinked vertebral arteries “69. Reynaud's phenomenon “70. Small veins “71. Circle of Willis anomalies Neurologic, Brain, and MR Findings “72. Periventricular cysts (mostly at anterior horns) “73. Smallcerebellar vermis “74. Cerebellar hypoplasia/dysgenesis “75. White matter UBOs (unidentified bright objects) “76. Generalized hypotonia “77. Cerebellar ataxia “78. Seizures “79. Strokes “80. Spina bifida/meningomyelocele “81. Mild developmental delay “82. Enlarged Sylvian fissure

Pharyngeal/Laryngeal/Airway Findings “83. Upper airway obstruction in infancy “84. Absent or small a denoids “85. Laryngealweb (anterior) “86. Large pharyngeal airway “87. Laryngomalacia “88. Arytenoid hyperplasia “89. Pharyngeal hypotonia “90. Asymmetric pharyngeal movement “91. Thin pharyngeal muscle “92. Unilateral vocal cord paresis “93. Reactive airway disease “94. Asthma Abdominal/Kidney/Gut “95. Hypoplastic/aplastic kidney “96. Cystic kidneys “97. Inguinal hernias “98. Umbilical Hernias “99. Malrotation of...