DiGeorge Syndrome

What is DiGeorge and What are the Medical Needs of Someone with this Disorder?


Velo-cardio-facial syndrome/ DiGeorge 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/DiGeorge. No features are found in 100% of cases , but all occur with sufficient frequency to warrant assessment. If you have 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

more Craniofacial/Oral Findings **** Madison has 1,3,12

.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

more Eye Findings **** Madison has 18,19,31

.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

more Ear/Hearing Findings **** Madison has 34,35,38,39,41

.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

more Nasal Findings **** Madison has none of these

.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

more Cardiac and Thoracic Vascular Findings **** Madison has/had 47,49,50, and an enlarged right side of her heart

.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

more Vascular Anomalies **** Madison has 62,63,70, and fragile vein syndrome

.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

more Neurologic, Brain, and MR Findings **** Madison has 75,76,78,80,81,

.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

more Pharyngeal/Laryngeal/Airway Findings **** Madison has/had

.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

more Abdominal/Kidney/Gut **** Madison has 96, 98, hernias and cyclic vomiting syndrome

.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)

more Limb Findings **** Madison has 103,104,105 sometimes 106

.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

more Problems in Infancy **** Madison has/had 112,113,114,115,116

.112. Feeding difficulty, Failure-to-thrive
.113. Nasal vomiting
.114. Gastroesophageal reflux
.115. Irritability
.116. Chronic constipation (not Hirschsprung megacolon)

more Genitourinary **** None of these!

.117. Hypospadias
.118. Cryptorchidism
.119. Vesico-ureteral reflux

more Speech/Language **** Madison has 121,122,123,124,125

.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

more Cognitive/Learning **** Madison has 127,131

.126. Learning disabilities (math concept, reading
.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

more Miscellaneous anomalies **** Madison has/had 132,133,135

.132. Spontaneous oxygen desaturation without apnea
.133. Thrombocytopenia, Bernard-Soulier disease
.134. Juvenile rheumatoid arthritis
.135. Poor body temperature regulation

more Psychiatric/Psychological **** Madison has 144,149,148

.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

more Immunologic **** Madison has 153,154,155,156

.153. Frequent upper respiratory infections
.154. Frequent lower airway disease (pneumonia,bronchitis)
.155. Reduced T cell populations
.156. Reduced thymic hormone

more Endocrine**** Madison has/had 157,158,160,161

.157. Hypocalcemia
.158. Hypoparathyroidism
.159. Hypothyroidism
.160. Mild growth deficiency, relative small stature
.161. Absent, hypoplastic thymus
.162. Small pituitary gland (rare)

more Skeletal/Muscle/Orthopedi **** Madison has 163,164,173, 174,175

.163. Scoliosis
.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

more Skin/Integument **** Madison has 180-we love that one

.180. Abundant scalp hair
.181. Thin appearing skin (venous patterns easily visible)

Some other facts about the syndrome:
Population prevalence (estimated): 1:2,000 people
Birth incidence (estimated): 1:1,800 births


What are the medical needs of children with the 22q11.2 deletion?

"Once the diagnosis of a 22q11.2 deletion has been made, what should happen next? Since children with a 22q11.2 deletion may have problems in many different body systems, for example, heart, palate and learning style, it makes sense that they should have a comprehensive evaluation of all areas which could be affected. At The Children's Hospital of Philadelphia, we recommend that all patients with a 22q11.2 deletion have the following evaluations, at least once, to rule out any potential problem. (This list is continuously changing as new findings are recognized amongst patients and is, therefore, not all inclusive. Also note that some problems, such as speech delay, for example, are not obvious at birth and can only be identified over time"

more Cardiology

If the child does not have a known cardiac defect, an evaluation with a cardiologist is important, although the likelihood of finding a previously unrecognized problem is low. An evaluation may include a chest x-ray, electrocardiogram (study of the electrical impulses of the heart), and an echocardiogram (ultrasound of the heart).

more Child Development and Psychology

Children with a 22q11.2 deletion may have a difference in learning style requiring some extra help in school. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. Therefore, it is important for patients with the deletion to have developmental testing on a regular basis to determine if there is a problem, and to identify appropriate intervention when needed.

more Cleft palate team

All children with the 22q11.2 deletion should be seen by a plastic surgeon who specializes in cleft palate and VPI (velopharyngeal incompetence). In addition, they should be seen by a speech and language pathologist who can also assess speech, language, and feeding (in a young child). Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor the growth of the face, jaw, and teeth.

more Endocrinology

Some children have problems with low calcium in the newborn period and require a calcium supplement. This is often handled by the cardiologist or pediatrician. If the problem continues, an endocrinologist (hormone doctor) may be asked to see the patient. In addition, some older patients with the 22q11.2 deletion have problems with growth (short stature) and would benefit from an evaluation by an endocrinologist since, in some cases, this is treatable.

more ENT and Audiology

Children with a palatal problem often have trouble with ear infections and can benefit from seeing an ear, nose and throat doctor (ENT). Since some patients with a 22q11.2 deletion have hearing loss, a hearing test (audiogram) would often be beneficial. In addition, some children have problems with breathing. These children in particular may benefit form an evaluation by an ENT. This is often part of the cleft palate team evaluation.

more Feeding Specialist

Patients with a 22q11.2 deletion often have feeding difficulties, usually in the newborn period. These difficulties may be helped having an evaluation with a pediatrician who specializes in feeding. This would only be recommended if a problem already existed.

more Genetics

The geneticist is the most likely person to have an overview of the diagnosis. This would include keeping up to date with the new findings associated with the 22q11.2 deletion. Therefore, a yearly evaluation with genetics is often beneficial in answering questions regarding the patientgeneral care, recurrence risk, and the availability of prenatal diagnosis.

more Immunology

Many newborns with the 22q11.2 deletion have problems with their immune systems and therefore may have trouble with infections or trouble handling certain vaccines. Most children outgrow this problem by their first birthday, but some patients continue to have some trouble into later childhood and adulthood. We suggest that every patient be evaluated by the immunologist at least once.

more Neurologist

Rarely, children with a 22q11.2 deletion have had symptoms such as a seizure disorder or problems with balance which require the services of a neurologist. We suggest that an initial evaluation with a neurologist may be helpful in some cases.

more Urology

Some patients with the 22q11.2 deletion have problems with their kidneys, including a missing kidney, which would be detected by a renal ultrasound. In addition, some children have difficulty with urinary tract infections, bedwetting or urinary frequency, and would benefit from seeing a urologist who is a specialist in this area.

more Other

Some patients with the 22q11.2 deletion commonly have: constipation, leg pain, and differences in the carotid arteries (blood vessels in the neck which lead to the brain). Other patients with the 22q11.2 deletion have problems which are seen fairly infrequently. These include: bony abnormalities such as extra fingers, extra ribs, a missing bone of the forearm, and problems of the vertebrae (spine) which sometimes leads to scoliosis (curvature of the spine), spina bifida, juvenile rheumatoid arthritis, eye problems, premature fusion of the 쳯ft spotsr fontanels (craniosynostosis), and emotional or psychological problems. Patients who have a problem in one of these areas are referred to the doctors who care for that particular problem.

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