General Genetics
General genetics describes the passing on of features from one generation to another.
Common symptoms
Multiple congenital anomalies: A number of body parts have been improperly formed.
Learning disability/mental retardation/developmental delay: Trouble with gaining new knowledge, intellectual abilities and.or skills.
Poly-hydramnios: Too much amniotic fluid around the baby inside the tummy of the mother (the person with 22q11.2DS).
Management options
- Genetic counselling
- Medical management
- Gynaecological and contraceptive services
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Medical Genetics
- Onstetrics and gynaecology
Cardiovascular
Cardiovascular describes structures that are heart related, either structures through which the blood exits the heart (conotruncal), or other structures of the heart.
Common symptoms
Any congenital defect: Any heart problems that individuals are born with.
Major heart defect: Major heart problems requiring surgery.
Management options
- Echocardiogram (heart ultrasound)
- Irradiated blood products for infant surgeries
- Calcium level
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Cardiovascular surgery
- Cardiology
Palatal and Related
Palatal means related to the structure of the upper roof of the mouth.
Common symptoms
Hypernasal speech (crying) and/or nasal regurgitation: The voice sounds like it is coming from the nose. Throwing up liquids through the nose.
Velopharyngeal insufficiency ± submucous cleft palate: The soft muscle that separates the nasal cavity and the oral cavity does not close properly when talking. The roof of the mouth is split, but this split is covered by soft tissue and is not easily seen.
Chronic and/or secretory otitis media: Middle ear infection that does not get better. Fluid collects in a middle ear without infection for a long time.
Sensorineural and/or conductive hearing loss: Inability of the ear to detect sounds due to problems with the inner ear or the hearing nerve. Inability of the ear to detect sounds due to problems with the middle or outer ear.
Management options
- Speech therapy
- Palatal surgery
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Speech pathology
- Plastic surgery/Cleft palate team
- Otolaryngology (ear, nose, throat specialty)
- Audiology (hearing specialty)
Immune-related
Immune-related means related to the body’s ability to fight sicknesses.
Common symptoms
Recurrent infections: Getting sick often.
T-cells low and/or impaired function: Decreased amount of a type of white blood cells. Decreased ability of these cells to fight sickness.
Autoimmune diseases: The immune system attacking parts of the own body of the individual with 22q11.2DS.
Management options
- Influenza vaccinations
- Special protocol for infants
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Immunology
- Rheumatology (bones, joints, and connective tissues specialty)
- Otolaryngology (ear, nose, throat specialty)
- Allergy
- Respirology (breathing specialty)
Endocrine
Endocrine means related to glands that produce hormones (tiny little chemicals that your body produces that have far-reaching effects in the body).
Common symptoms
Hypocalcemia and/or hypoparathyroidism: Low calcium levels in the blood. Low parathyroid hormone levels (which in turn lead to low calcium and phosphorus levels in the blood).
Hypothyroidism: Symptoms related to not having enough thyroid hormone.
Hyperthyroidism: Symptoms related to having too much thyroid hormone.
Obesity: Body weight is higher than ideal.
Management options
- Vitamin D and calcium supplementation
- Growth hormone
- Dietary/exercise counselling
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
Gastroenterological
Gastroenterological related to the digestive system.
Common symptoms
Gastro-esophageal reflux: Stomach contents coming back up the esophagus.
Dysmotility/dysphagia: Muscles in the gastrointestinal tract not working properly, so it takes longer time for food to pass through intestines. Trouble swallowing certain food and drink textures.
Constipation: Difficulty in passing bowel movements.
Cholelithiasis: Having gallstones (small deposits) in the gallbladder.
Umbilical/inguinal hernia: A section of the gut goes through the belly button or the groin.
Management options
- Tube feeding
- Nissen fundoplication (surgery that helps control the opening between the esophagus and the stomach, so that the stomach content does not come back up)
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Gastroenterology
- General surgery
- Feeding team
- Respirology
Genitourinary
Genitourinary means related to genitals and urinary systems.
Common symptoms
Structural urinary tract anomaly: Structure involved in passing urine is not formed properly.
Dysfunctional voiding: Not passing urine properly.
Unilateral renal agenesis: Having only one kidney (the other kidney did not form).
Multicystic dysplastic kidneys: Kidneys having multiple “holes”.
Management options
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Urology (urinary tract surgical specialty)
- Nephrology (kidney specialty)
- Gynaecology (female genital organ specialty)
- Radiology (medical imaging specialty)
Ophthalmology
Ophthalmology means related to the eye.
Common symptoms
Strabismus: The two eyes cannot work together to look at an object properly.
Refractory errors: The eyes cannot focus properly.
Posterior embryotoxon, tortuous retinal vessels: Extra twisted blood vessels at the back of the eye.
Management options
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
Skeletal
Skeletal means related to bones.
Common symptoms
Scoliosis (may require surgery): Twisted spine.
Cervical spine anomalies/thoracic butterfly vertebrae: Abnormal neck bones. Spine in the upper back did not form properly; looks like a butterfly on the x-ray.
Idiopathic leg pains in childhood: Random leg cramps in children.
Sacral sinus: Small hole at the mid-line of the bum
Management options
- Radiographs (x-rays or other imaging)
- Orthotics (support under the foot in the shoes)
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Orthopaedics (bone surgery specialty)
- Neurosurgery (brain and nerve surgery specialty)
- Radiology (medical imaging specialty)
- General surgery
- Hand surgery
- Physiotherapy
Hematology/Oncology
Hematology means related to blood, and oncology means related to cancer.
Common symptoms
Thrombocytopenia: Low platelets (component of blood that helps stop bleeding).
Splenomegaly: Large spleen (organ in the left upper side of the abdomen that filters blood).
Management options
- Surveillance (monitoring)
Neurologic
Neurologic means related to brain and nerve.
Common symptoms
Recurrent (often hypocalcemic) seizures: Frequent fits often due to having low calcium levels in blood.
Unprovoked epilepsy: Frequent fits without cause.
Management options
- Calcium, magnesium levels
- Electroencephalogram (measure of brain electrical activities)
- Magnetic resonance imaging
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
Growth and development
Common symptoms
Failure to thrive: Not growing well.
Motor and/or speech delays: Delay in developing the skills for movement. Delay in learning to talk.
Learning disabilities; mental retardation: Problems with learning and developing.
Short stature: Having a height that is significantly below the average when compared to people of the same age and gender.
Management options
- Early intervention
- Sign language
- Educational supports
- Vocational counselling (job related help)
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Developmental paediatrics (child development specialty)
- Speech language pathology
- Occupational/physical therapy
- Neuropsychology (brain behaviour, emotion, and cognition specialty)
- Educational psychology
Neuropsychiatric disorders
Neuropsychiatric disorders means mental health problems.
Common symptoms
Psychiatric disorders: Mental health problems.
Childhood disorders; e.g., attention-deficit hyperactivity disorder, autism spectrum disorders: Having very short attention span, easily distracted. Problems with social interactions, communication, and behaviour.
Anxiety and depressive disorders: Excessive worries and negative feelings.
Schizophrenia and other psychotic disorders: Mental health problems related to the distorted perception of reality.
Management options
- Surveillance
- Standard treatments
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Psychiatry (mental health specialty)
- Developmental paediatrics
Common symptoms
Non-infectious respiratory disease: Lung problems not related to infections.
Seborrhea or dermatitis; severe acne: Skin problem; very bad zits.
Patellar dislocation: Knee cap moved out of proper location.
Dental problems—enamel hypoplasia/chronic caries: Teeth problem: weakness of the outer coating of teeth; cavities.
Varicose veins: Dilated vessels that carry blood to the heart.
Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)
- Respirology/Pulmonary (lung specialty)
- Anesthesia (specialty that deals with pain relief during surgeries)
- Dermatology (skin specialty)
- Rheumatology (bone, joint, and connective tissue specialty)
- Orthopaedics (bone surgery specialty)
- Dentistry (teeth and supporting structures specialty)
- Vascular surgery (blood vessel surgery specialty)
