DiGeorge Syndrome (aka VELO-CARDIO-FACIAL SYNDROME) Velo-cardio-facial syndrome (VCFS) is caused by a deletion of a small segment of the long arm of chromosome 22 known as Deletion 22q11. 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. Craniofacial/Oral Findings .1. Overt, submucous or occult submucous cleft palate .2. Retrognathia (retruded lower jaw) .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 ear canals Nasal Findings **** ( .42. Prominent nasal bridge .43. Bulbous nasal tip .44. Mildly separated nasal domes (nasal tip appears bifid) .45. Pinched alar base, narrow nostrils .46. 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 internal carotids .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. Reynauds phenomenon .70. Small veins .71. Circle of Willis anomalies Neurologic, Brain, and MR Findings .72. Periventricular cysts (mostly at anterior horns) .73. Small cerebellar 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 occulta/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. Laryngeal web (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 bowel .100. Diastasis recti .101. Diaphragmatic hernia (uncommon) .102. Hirschsprung megacolon (rare) Limb Findings .103. Small hands and feet .104. Tapered digits .105. Short nail beds .106. Rough, red, scaly skin on hands and feet .107. Morphea .108. Contractures .109. Triphalangeal thumbs .110. Polydactyly, both pre- and postaxial (uncommon) .111. Soft tissue syndactyly Problems in Infancy **** .112. Feeding difficulty, Failure-to-thrive .113. Nasal vomiting .114. Gastroesophageal reflux .115. Irritability .116. Chronic constipation (not Hirschsprung megacolon) Genitourinary **** .117. Hypospadias .118. Cryptorchidism .119. Vesico-ureteral reflux Speech/Language .120. Severe hypernasality .121. Severe articulation impairment (glottal stops) .122. Language impairment (usually mild delay) .123. Velopharyngeal insufficiency (usually severe) .124. High pitched voice .125. Hoarseness Cognitive/Learning .126. Learning disabilities (math concept, reading comprehension) .127. Concrete thinking, difficulty with abstraction .128. Drop in IQ scores in school years (test artifact) .129. Borderline normal intellect .130. Occasional mild mental retardation .131. Attention deficit hyperactivity disorder Miscellaneous anomalies .132. Spontaneous oxygen desaturation without apnea .133. Thrombocytopenia, Bernard-Soulier disease .134. Juvenile rheumatoid arthritis .135. Poor body temperature regulation Psychiatric/Psychological 136. Bipolar affective disorder .137. Manic depressive illness and psychosis .138. Rapid or ultrarapid cycling of mood disorder .139. Mood disorder .140. Depression .141. Hypomania .142. Schizoaffective disorder .143. Schizophrenia .144. Impulsiveness .145. Flat affect .146. Dysthymia .147. Cyclothymia .148. Social immaturity .149. Obsessive compulsive disorder .150. Generalized anxiety disorder .151. Phobias .152. Severe startle response Immunologic .153. Frequent upper respiratory infections .154. Frequent lower airway disease (pneumonia,bronchitis) .155. Reduced T cell populations .156. Reduced thymic hormone Endocrine .157. Hypocalcemia .158. Hypoparathyroidism .159. Hypothyroidism .160. Mild growth deficiency, relative small stature .161. Absent, hypoplastic thymus .162. Small pituitary gland (rare) Skeletal/Muscle/Orthopedic .163. Scoliosis .164. Spina bifida occulta .165. Hemivertebrae .166. Butterfly vertebrae .167. Fused vertebrae (usually cervical) .168. Osteopenia .169. Sprengels anomaly, scapular deformation .170. Talipes equinovarus .171. Small skeletal muscles .172. Joint dislocations .173. Chronic leg pains .174. Flat foot arches .175. Hyperextensible/lax joints .176. Rib fusion .177. Extra ribs .178. Tethered cord .179. Syrinx Skin/Integument .180. Abundant scalp hair .181. Thin appearing skin (venous patterns easily visible) Secondary Sequences/Associations .182. Pierre Robin Sequence .183. DiGeorge Sequence .184. Potter Sequence .185. CHARGE Association .186. Holoprosencephaly Some other facts about the syndrome: Population prevalence (estimated): 1:2,000 people Birth incidence (estimated): 1:1,800 births Most common syndrome associated with cleft palate Second most common syndrome associated with congenital heart disease
Posted on: Fri, 08 Nov 2013 00:50:42 +0000
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