Can you explain my symptoms to me? And how should I deal with them?

Disclaimer: The following information pages are provided for educational purposes only. They are not intended to be taken as medical advice. If you have questions or concerns, please discuss them with your doctor or healthcare provider.

The following is adapted from Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. Another source of useful information is the Health Watch Table from the Surrey Place.

Body systems

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
  • Obstetrics and gynaecology

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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

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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)

  • Endocrinology
  • Dietician

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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

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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

  • Ultrasound
  • Transplant

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)

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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 embyrotoxon, tortuous retinal vessels
Extra twisted blood vessels at the back of the eye

Management options

  • Eye exam

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

  • Ophthalmology

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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

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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)

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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)

  • Neurology

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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

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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

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Others

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)

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