These are symptoms of DiGeorge/Velocardiofacial Syndrome. These are things that CAN but won't always show up in 1 person. No 2 people are just alike with DGS/VCFS.
Craniofacial/Oral Findings
1. Overt, submucous or occult submucous cleft palate* (ME)
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(TJ)
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(BOTH)
Ear/Hearing Findings
32. Overfolded helix
33. Attached lobules
34. Protuberant, cup-shaped ears(TJ)
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(TJ)
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(BOTH)
Cardiac and Thoracic Vascular Findings
47. VSD (Ventricular septal defect)
48. ASD (Atrial septal defect)
49. Pulmonic atresia or stenosis
50. Tetralogy of Fallot(BOTH)
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 NOT BEEN TESTED
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. Reynaud's phenomenon
70. Small veins
71. Circle of Willis anomalies
Neurologic, Brain, and MR Findings
NOT BEEN TESTED
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/meningomyelocele
81. Mild developmental delay(BOTH)
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(TJ)
Abdominal/Kidney/Gut NOT BEEN TESTED
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 nails
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(TJ)
113. Nasal vomiting(ME)
114. Gastroesophageal reflux
115. Irritability
116. Chronic constipation (not Hirschsprung megacolon)(TJ)
Genitourinary
117. Hypospadias
118. Cryptorchidism
119. Vesico-ureteral reflux
Speech/Language
120. Severe hypernasality(ME)
121. Severe articulation impairment (glottal stops)
122. Language impairment (usually mild delay)(BOTH)
123. Velopharyngeal insufficiency (usually severe)
124. High pitched voice(ME)
125. Hoarseness
Cognitive/Learning
126. Learning disabilities (math concept, reading
comprehension)(BOTH)
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.. Blood test just came back abnormal.. don't know which blood levels
153. Frequent upper respiratory infections(TJ)
154. Frequent lower airway disease (pneumonia,
bronchitis)(TJ)
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 slight curve... will follow up with an ortho
164. Spina bifida occulta
165. Hemivertebrae
166. Butterfly vertebrae
167. Fused vertebrae (usually cervical)
168. Osteopenia
169. Sprengel's 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. Robin sequence
183. DiGeorge sequence
184. Potter sequence
185. CHARGE association
186. Holoprosencephaly (single case)
Some other facts about the syndrome:
Population prevalence (estimated): 1:2,000 people
Birth incidence (estimated): 1:1,800 births
Prevalence in infants with conotruncal heart anomalies :10-
30%
Prevalence in cleft palate (without cleft lip): 8%
Craniofacial/Oral Findings
1. Overt, submucous or occult submucous cleft palate* (ME)
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(TJ)
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(BOTH)
Ear/Hearing Findings
32. Overfolded helix
33. Attached lobules
34. Protuberant, cup-shaped ears(TJ)
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(TJ)
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(BOTH)
Cardiac and Thoracic Vascular Findings
47. VSD (Ventricular septal defect)
48. ASD (Atrial septal defect)
49. Pulmonic atresia or stenosis
50. Tetralogy of Fallot(BOTH)
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 NOT BEEN TESTED
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. Reynaud's phenomenon
70. Small veins
71. Circle of Willis anomalies
Neurologic, Brain, and MR Findings
NOT BEEN TESTED
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/meningomyelocele
81. Mild developmental delay(BOTH)
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(TJ)
Abdominal/Kidney/Gut NOT BEEN TESTED
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 nails
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(TJ)
113. Nasal vomiting(ME)
114. Gastroesophageal reflux
115. Irritability
116. Chronic constipation (not Hirschsprung megacolon)(TJ)
Genitourinary
117. Hypospadias
118. Cryptorchidism
119. Vesico-ureteral reflux
Speech/Language
120. Severe hypernasality(ME)
121. Severe articulation impairment (glottal stops)
122. Language impairment (usually mild delay)(BOTH)
123. Velopharyngeal insufficiency (usually severe)
124. High pitched voice(ME)
125. Hoarseness
Cognitive/Learning
126. Learning disabilities (math concept, reading
comprehension)(BOTH)
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.. Blood test just came back abnormal.. don't know which blood levels
153. Frequent upper respiratory infections(TJ)
154. Frequent lower airway disease (pneumonia,
bronchitis)(TJ)
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 slight curve... will follow up with an ortho
164. Spina bifida occulta
165. Hemivertebrae
166. Butterfly vertebrae
167. Fused vertebrae (usually cervical)
168. Osteopenia
169. Sprengel's 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. Robin sequence
183. DiGeorge sequence
184. Potter sequence
185. CHARGE association
186. Holoprosencephaly (single case)
Some other facts about the syndrome:
Population prevalence (estimated): 1:2,000 people
Birth incidence (estimated): 1:1,800 births
Prevalence in infants with conotruncal heart anomalies :10-
30%
Prevalence in cleft palate (without cleft lip): 8%
Posted by
on Jul. 27, 2007 at 5:50 AM
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