Glossary of Terms

The Max Appeal Dictionary ....

... a glossary of terms and abbreviations concerning the 22q11deletion syndrome.

When you have a child with a genetic disorder, such as a chromosome 22q11.2 deletion syndrome you may hear lots of medical terms and other words, jargon and abbreviations that are unfamiliar to you.

The first problem is the name! Depending on the age of diagnosis it may be described as DiGeorge syndrome (after the first person to notice the combination of several symptoms occurring together) when the deletion is suspected soon after birth or, if diagnosed later with feeding or speech problems as the Velo-Cardio-Facial Syndrome (VCFS). There are many other names to describe the conditions that are now recognised as being caused by the loss of small part of chromosome 22 in a section known as q11.2. And just to confuse the issue there are a very few children who present with the classical signs of 22q11.2 DS but in whom the deletion cannot be identified by current laboratory tests.

In this glossary the abbreviation 22q11DS has been used.

We have compiled this glossary to help you to understand some of the most common medical terms you may come across. We have used a number of resources for this, including the staff at the MaxAppeal, Dr.D.S.Kumararatne, Consultant Immunologist, Addenbrooke's Hospital and the excellent website from the Children's Hospital of Philadelphia's

Please note that these descriptions are intended to help you understand medical terms and are not necessarily a full medical explanation.


  • Adenoids: Glands of immune tissue located behind the nose at the back of the nasal cavity. Removal in 22q11DS children is not recommended as the position of the major arteries may be affected by the syndrome.
  • Amniocentesis: A test used to check an unborn baby for many problems, including chromosomal disorders or gene abnormalities. A needle is inserted into the mother's abdomen and a small amount of the amniotic fluid surrounding the baby is removed for testing. This fluid contains cells from the baby which can be grown in a laboratory and tested. The amniocentesis is performed around 18 weeks of pregnancy.
  • Anomaly: Something that is different from the usual. There are many different anomalies associated with 22q11DS i.e. things which are seen in those with the deletion but which are unusual in the general population.
  • Antenatal: Before birth.
  • Aorta: The largest artery in the body, it carries blood from the heart to the body. It normally runs upwards from the heart before arching over to descend through the chest and abdomen.
  • Aortic arch anomalies: One of the many cardiac problems that occur with 22q11DS, see the Chapter in the Handbook for more details.
  • Artery: Blood vessels that carry blood laden with oxygen from the lungs around the body (red blood).
  • ASD Atrial Septal Defect: A heart defect; a hole in the wall between the two upper chambers of the heart.
  • Aspiration: In medical terms this can mean swallowing something "down the wrong way" or it can refer to a medical procedure that removes something from the body that shouldn't be there e.g. air or liquid from the stomach or lungs.
  • Atrium: One of the upper chambers of the heart, when referring to both chambers the plural is atria.
  • Attention Deficit Disorder/ Attention Deficit Hyperactivity Disorder ADD/ADHD: This commonly develops in childhood and those affected are easily distracted, impulsive and restless. The cause has yet to be confirmed but there does appear to a genetic involvement. It can occur without 22q11DS where it is common for another member of the family to be affected. 22q11DS children are less likely to show hyperactivity and ADD should be the preferred label.


  • B cells: A blood cell (a type of lymphocyte) that makes proteins called immunoglobulins, these are the antibodies that help to prevent germs from causing infections.
  • Bilateral: Affecting both sides of the body.
  • Bipolar disorder: A mental disorder characterised by mood swings. This disorder is quite common in the general population occurring in about 1 in 100 people.
  • Blood vessel: The arteries and veins (tubes) that carry blood from the heart to the lungs and body.
  • BMI Body Mass Index: An indication of not being too under or overweight calculated from weight and surface area (in practice this means measuring our weight and height and using a chart) A score of 20 – 25 is healthy.


  • Cardiac: To do with the heart.
  • Cardiologist: A doctor who specializes in diagnosing and treating heart problems.
  • CCFS Cayler Cardio-Facial Syndrome: A weakness on one side of the face together with heart problems, a less common variant of 22q11DS
  • CD4 and CD8 cells: These terms refer to types of T lymphocytes that are white blood cells. T lymphocytes are trained to recognize markers of infection in the thymus, an organ that may be missing in 22q11DS children. Babies without a normal thymus will have an immune system that works poorly for the first few years of life although they usually produce enough cells in time. The names CD4 and CD8 come from markers on the cell wall that can be detected in the laboratory. Some vaccines (containing live components) should not be given until the CD4 and CD8 cells reach a minimum level.
  • Cell: The smallest building block of the body; the nucleus is the control centre of the cell.
  • Chromosomes: These are contained within the nucleus of cells and contain the genes. It is common to describe the genes as being arranged along a chromosome like beads on a string. Humans have 22 pairs of chromosomes plus the 23rd pair, the X and Y chromosomes which determine the sex of the person. One chromosome and so one set of genes are inherited from each parent. Chromosomes can only be seen under a microscope. Chromosomes 22 are the smallest pair in the cell. Each pair is joined together making a rough X shape with two arms longer than the others.
  • Chromosome 22q11.2 deletion: Part of the chromosome 22 at location on the longer q arm in position 11.2 is missing.
  • Chromosome 22q11.2 Deletion Syndrome: The collection of problems and anomalies that result from the deletion. Abbreviated in this document as 22q11DS. It is also known by many other names depending on the symptoms that lead to the diagnosis.
  • Chronic: A condition which may be slow to develop, long-lasting, and possibly keep coming back after treatment.
  • Cleft: An opening, split or division
  • Cleft lip: The result of a failure of the lip to close during development in the womb, once called a 'hare lip' this is uncommon in 22q11DS but such babies will have problems feeding. Surgery to mend the defect is usually carried out when the child is young.
  • Cleft palate: The result of a failure of the parts of the roof of the mouth to close during development in the womb. A gap is left between the mouth and the nasal cavity. This can cause problems with both feeding and speech. See VPI. Sub mucosal cleft palates may not be noticed at birth as skin covers the cleft.
  • Clinical genetics: A medical speciality that both diagnoses and offers counselling to those affected by conditions which are caused by a defect in single genes or chromosomes whether they are inherited or occur by chance. A Clinical Geneticist is a doctor who specialises in this area of medicine.
  • Coartation: A narrowing of the aorta that restricts blood flow.
  • Cognition/Cognitive: The process of perceiving, thinking, reasoning and analyzing.
  • Communication skills: The ability to use language i.e. to understand 'receptive language' and to convey ideas 'expressive language'.
  • Congenital: A problem that someone is born with but is not necessarily inherited.
  • Consensus: to be in agreement. A medical "Consensus Document" is published only when leading doctors have agreed on the best way to treat a long lasting health problem.
  • Conotruncal cardiac malformations: This refers to a group of defects associated with the blood vessels leaving the heart ie the aorta and the artery leading to the lungs. Conotruncal anomaly face syndrome (CTAF) is another name for the 22q11DS.
  • CVS Chorionic Villus Sampling: is a way of checking for chromosomal or genetic disorders in the unborn baby. A sample of tissue from the placenta is removed and studied. It can be carried out earlier in the pregnancy than amniocentesis but carries a higher risk of miscarriage.
  • Cyanosis: A bluish or purple skin colouri


  • De novo: From the Latin, meaning new or original, it is used to mean that a genetic anomaly was not inherited from either parent but has occurred by chance.
  • Development: The process of growth and learning during which a child acquires skills and abilities such as crawling, walking and talking.
  • Developmental delay: When a child is slow to reach milestones such as sitting up, crawling, walking, speaking.
  • There are 5 main areas.a) cognitive development, the ability to learn and to solve problems b) speech and language c) gross motor skills d) fine motor skills and e) Social and emotional development where children learn to interact with others, e.g. sharing a toy or taking turns.
  • Developmental milestones: E.g. the first tooth, the first word, learning to read. The Personal Child Health Record (Red Book) allows parents to record when the milestones are reached.
  • DGS syndrome: Shortened version of DiGeorge syndrome.
  • DiGeorge syndrome: One of the names for chromosome 22q11.2 deletion, this is more likely to be used if the child is diagnosed soon after birth. Dr DiGeorge first noticed the association of several symptons of 22q11DS occurring together.
  • DNA: Deoxyribonucleic acid; the long molecules that make up our genes, form the chromosomes and pass on hereditary traits.
  • Dysmotility: Problems where food is slow to pass through the digestive system, usually due to weak muscles.
  • Dysphagia: Swallowing or feeding difficulties, often as a result of a cleft palate. Older children may be diagnosed as having the 22q11DS when investigated for a sub-mucosal cleft palate.
  • Dyspraxia: Clumsiness resulting from a problem with organising the way to move because the brain is not correctly passing messages to the limbs.


  • ECG: Electrocardiogram: A test of the heart used to detect heart conditions by measuring the electrical activity of the heart. A series of peaks and troughs are recorded onto paper and examined.
  • Echo Cardiogram: an ultrasound scan of the heart. Sound waves are used to produce an image of an organ, similar to the scans carried out during pregnancy.
  • Endocrine gland: A group of cells that make hormones that control the function of many organs of the body.
  • Endocrinologist: a doctor who cares for patients with problems with the endocrine (hormone producing) glands, such as the parathyroid gland, which controls the hormone that regulates calcium levels. An endocrinologist also sees patients who need growth hormone treatment to correct short stature and manages diseases such as diabetes and thyroid disorders.
  • ENT: Ear, Nose and Throat Department or doctor.
  • Enteral feeding: A nutritionally complete food i.e. one that contains everything needed for health is delivered into the stomach by a naso-gastric tube or directly by a gastronomy tube.
  • Epiglottis: A hard flap that is attached to the tongue and when swallowing should close off the windpipe (trachea) so that food goes down the gullet (oesophagus) and not into the lungs.
  • Esophagus: (US spelling) The gullet or "food pipe" that connects the mouth with the stomach.
  • In the UK this is spelt oesophagus.
  • Expressive language: Communication using signs, gestures, words and written symbols. Children with an expressive language disorder may have trouble completing a sentence and speech may be slow while they find the right words. However they usually have no problem understanding language.


  • Facial asymmetry: where one side of the face is looks or moves slightly different to the other side.
  • Facies: Refers to the facial appearance.
  • Fine motor skills: These involve movements of the small muscles of the body, such as hands, feet, fingers and toes, especially those needing eye to brain co-ordination. Someone might find everyday tasks such as coping with buttons and fasteners awkward while writing, turning pages and using a keyboard is difficult which will affect school work.
  • FISH: Fluorescence In Situ Hybridisation is the laboratory test used to identify extra or missing pieces of chromosomal material that are too small to detect under the microscope without this technique. It will be used to confirm the diagnosis for children suspected of being affected by 22q11DS and also to check if the deletion was passed on by either parent. If the deletion is carried by either parent then other children born to them could be affected.
  • Fontanelles: The soft spots of the skull in babies, these close over by the age of two.
  • Fundoplication: An operation on the stomach to prevent very serious reflux or heartburn.


  • Gastro: To do with the stomach.
  • Gastro-oesophageal reflux disease GOR (or in the US GER): The stomach contents may re-enter (reflux) up into the oesophagus and cause inflammation and pain (heartburn). If this happens often scarring and narrowing of the oesophagus could result and in severe cases surgery, fundoplication, recommended. Children with feeding difficulties may be suffering from GORD.
  • Genes: These are made up of DNA and are arranged along the chromosomes like beads on a string. They determine everything about us: how tall we are, our hair and eye colour, etc. Some genes direct the cell to make proteins, some control the function of other genes. Many genes have variants (alleles) that can function e.g eye colour but other variants can cause disease such as sickle cell anaemia. Some are dominant eg a person with a gene for both blue and brown eyes will have brown eyes but some characteristics are controlled by many genes scattered on different chromosomes. In the 22q11DS some of the genes are lost when the deletion takes place. Some of the missing genes have been identified, together with their role in life but we don't yet understand the role of all the missing genes that result in the anomalies seen in 22q11DS.
  • Genetic: This term is used in two ways. It can describe the way something is inherited e.g. eye colour or a hereditary disease is passed from one generation to another or refer to a new mutation that has happened by chance. While 22q11DS can be inherited from an affected parent many cases arise by chance.
  • Geneticist: See Clinical genetics.
  • Genotype: The genotype of a person is her or his genetic makeup. The term may also refer to a specific gene.
  • GI system: The gastrointestinal system takes food in at the mouth and passes it down through the oesophagus to the stomach on into the gut (small and large intestines) where it is digested and finally waste matter is passed out through the anus at the lower end.
  • Glue ear: This can occur when an infection results in the production of a sticky secretion that leads to pain and deafness. The insertion of grommets or ear tubes can help if repeated infections occur.
  • Grommets: These are frequently used for the treatment of repeated ear infections, Secretory Otitis Media (SOM) or "Glue Ear". Small tubes are placed in the eardrum to allow drainage of fluid and also equalise the pressure in the middle ear which relieves pain.
  • Gross motor skills: The large muscles of the body control such activities as walking, lifting and throwing. These are known as the gross motor skills and depend on muscle strength and tone.
  • muscle tone or hypotonia means that muscles are slow to respond to instruction from the brain and do not contract fully before relaxing again.


  • Heartburn: see Gastro-oesophageal reflux (GOR)
  • Hereditary: Something that "runs in the family" and is passed down through generations e.g the shape of the nose or a disease that is inherited via particular genes.
  • Hormones: Chemicals produced by the cells of the endocrine glands which control other cells and organs. They affect how your body uses the food it takes in, growth, development, mood and if we are able to have children.
  • Hyper- : means too much or a lot of eg a hyperactive child is too active
  • Hypernasal speech: This speech pattern occurs when too much air escapes through the nose resulting from velo-pharyngeal insufficiency (VPI) because of defects of the palate and surrounding tissues.
  • Hypo- : means too little. .
  • Hypocalcaemia: A lower than normal level of blood calcium
  • Hypothyroidism: A disease resulting from a decreased production of thyroid hormone by the thyroid gland.
  • Hypotonia: Weak (floppy) muscles which are slower to respond to commands.
  • Hypotonic facies: Weak tone to the muscles of the face that result in a lack of expression.


  • Idiopathic: A disease without a known cause.
  • IEP Individual Education Plan: An action plan where a school arranges to help a child meet targets, this could be part a Statement, see below.
  • Immune system: Cells and chemicals in the blood and body that work together defend the body against infections.
  • Immunodeficiency or immune deficiency: This occurs when part, or parts, of the immune system are weakened or entirely absent resulting in more frequent infections.
  • Immunologist: A doctor who cares for people with problems involving the body's immune system.
  • Infant stimulation: Playing with a baby can stimulate them to use their senses and aid their development. This can help them reach the developmental milestones sooner.
  • Interrupted aortic arch: When the bend in the aorta above the heart has a blockage or gap, so no blood is flowing through the aorta. If a little bit of blood flows through, then it's called a coarctation.
  • Intervention: This can be medical, surgical or educational but all interventions are aimed at helping a child achieve its full potential and live life as well as possible.
  • IQ: Intelligence Quotient. A numerical measure of intelligence or cognitive ability which is worked out t by using by standardized tests. A normal value is between 90 and 109, higher values indicate a higher level of intelligence.


  • Juvenile Arthritis: also known as Juvenile Idiopathic Arthritis (JIA) or Juvenile Chronic Arthritis (JCA) and previously called Juvenile Rheumatoid Arthritis (JCA). Painful swelling and stiffness of joints that often improves with age but can persist into adulthood. It is an autoimmune disorder where the body's defence system turns on itself.


  • Karyotype: A word used to describe the number and appearance of a preparation of chromosomes under a microscope. This test is not useful for 22q11DS as the deletion is too small to be seen and needs the FISH test to detect the deletion.


  • Language: The way we communicate with each other. Language can be spoken, written or signed.
  • Larynx: This is between the mouth and the trachea or windpipe and is also known as the "Voice Box"
  • Learning difficulties: Someone may have trouble learning from the way schools teach because their brain works slightly differently to the majority of people, not because of a low IQ. With good support and alternative ways of learning this can be overcome.
  • Lymphocytes: Some of the white blood cells that are part of the immune system, are called lymphocytes, there are two types, B cells and T cells.


  • Mainstream: Something available to the general public e.g. General education at ordinary schools and pre-schools. To 'mainstream' means that children with Special Needs are encouraged to stay in mainstream education, usually with extra help.
  • Malar flatness: This describes the flattened appearance of cheek bones that may be seen in 22q11DS.
  • Manic depression: Another, older, name for bipolar disorder.
  • Microcephaly: A small head size for the age and sex of the person.
  • MMR: The MMR vaccine protects against Measles, Mumps and Rubella (German measles) Unlike most vaccines it contains live viruses. This is safe for 22q11DS children once their immune system has matured to produce a recommended level of lymphocytes. An immunologist will advise on when it is safe to be given. The possible link with MMR and autism was based on shaky evidence and has not been proved.
  • Motor skills: The ability to control the muscles of the body, see Fine and Gross Motor skills.
  • MRI Magnetic Resonance Imaging: A scan may be carried out on any part of the body. The MRI scanner produces more detailed pictures than either conventional X-rays or ultra sound scans.
  • Mutation: Damage to the DNA that affects the function of a gene. 22q11DS is not caused by a mutation but by the loss of a small section of the chromosome


  • Nasal: To do with the nose
  • Naso-gastric tube: A fine tube that is passed through the nose, down the throat and into the stomach to allow liquid feeds containing all the nutrition needed be given.
  • Necrotizing enterocolitis (NEC): More commonly associated with premature babies than in 22q11DS. Parts of the small bowel start to decay and need to be removed.
  • Neurocognitive: The way we think and use the different parts of our brain which have different functions.
  • Non-Verbal Learning Disorder (NLD) or Non Verbal Disability (NVLD): A specific and unusual learning difficulty where non-verbal skills (interpreting visual signs and facial expressions, for example) are lower than expected from a person's ability to use and understand words. E.g it may result in someone being unable to recognise signs of anger.
  • Nucleus: A package in the centre of cells that contains the chromosomes and genes, it is sometimes called the „control centre‟ of the cell.


  • Obese: Very overweight for the age and height with a Body Mass Index (BMI) of over 30.
  • Occupational Therapy (OT): Occupational Therapists are professionals who work with patients to help them achieve independence in daily living.
  • Oesophagus: The gullet or "food pipe" that connects the mouth with the stomach.
  • Opitz G/BBB syndrome: This is sometimes caused by a deletion in the 22q11.2 region. Ear, nose and throat problems, especially snoring are common, together with other problems seen in 22q11DS.
  • Ophthalmologist or Ophthalmic Optician: A trained professional who examines eyes and prescribes glasses if needed. Opticians are not medically qualified, see below.
  • Ophthalmic Medical Practitioner, Ophthalmic Surgeons: Medically qualified doctors who specialise in eye disease.
  • Oral: To do with the mouth.
  • Oral motorskills: The use of the muscles in and around the face for eating and speaking.
  • Oral transport: When food is pushed back by the tongue through the pharynx and swallowed.
  • Otitis media: Inflammation of the inner ear. Infections may cause secretions so it is sometimes called "glue ear" or Secretory Otitis Media. The insertion of grommets can help if repeated infections occur.
  • Otolaryngologist: A doctor or surgeon who specializes in ear, nose and throat problems, more commonly called ENT specialists.


  • Paediatrician: A doctor specialising in the care of children. As well as general paediatricians there are specialist surgeons, immunologists and cardiologists etc.
  • Palate: The roof of the mouth, it normally separates the oral and nasal cavities, and has a bony (hard palate) and muscular (soft palate) section.
  • Peer group: A person of the same age, status, or ability e.g. the other children in a class.
  • Pharyngeal transfer: When food is pushed backward by the tongue through the pharynx and swallowed.
  • Pharynx: The back of the throat. Both food and air pass through the pharynx on the way to the lungs or stomach. Normally a flap of skin, the epiglottis cuts off the larynx when food is being passed down to the gullet.
  • Phenotype: The result of our genes on our outward appearance and behaviour.
  • Philtrum: The shallow groove that runs from the upper lip to the nose
  • Physiotherapy: A Physiotherapist is a professional who specializes in overcoming physical problems such as those caused by weak muscles using a variety of techniques such as massage and exercise. Often abbreviated to Physio.
  • Platelets: Small, sticky blood cells that help blood to clot, they are also known as thrombocytes.
  • Pneumonia: A serious infection in the lungs causing inflammation and fluid, admission to hospital may be necessary.
  • Podiatrist: (or once known more commonly in the UK as Chiropodist) A professional trained to care for feet and legs. They may recommend the use of insoles to help with leg pains that can occur in 22q11DS.
  • Post mortem: Latin for 'after death', the term usually refers to the examination of a body to determine the cause of death. Also known as an autopsy.
  • Post natal: After the baby has been born.
  • PPF: Posterior Pharyngeal Flap: a surgical procedure where the PPF is extended to correct VPI (velopharyngeal incompetence).
  • Pre natal: Before the baby has been born.
  • Pulmonary artery: The main pulmonary artery which carries blood from the right side of the heart to the lungs.


  • q arm: The long arm of the chromosome first described by the French; so named because "q" follows "p" in the alphabet, and "p" stands for the petite (small) arm of the chromosome. A deletion of a small section of the q arm of chromosome 22 causes 22q11DS.


  • Receptive language: Gestures and spoken or written communications. Receptive Language disorders occur when a person has trouble understanding what is said to them, or in reading. They may be referred to as "learning difficulties".
  • Reflux: see GOR.
  • Renal: To do with the kidneys.
  • Rheumatoid (arthritis): A chronic and painful disease which may start by affecting the small joints of the fingers and toes and progress to other joints, usually both sides of the body are affected. See Juvenile arthritis.


  • Scoliosis: A sideways curve of the spine.
  • Secretory Otitis Media: see Otitis media
  • Seizure: A general term for a sudden collapse resulting from abnormal activity in the brain or lack of oxygen (a faint). There may be twitching with or without loss of consciousness. Although epilepsy is one type of seizure there are many other causes such a high temperature.
  • SEN Special Educational Needs: i.e. the support needed by a child to keep up with their classmates.
  • SENCO Special Educational Needs Co-ordinator In a UK school this person is responsible for ensuring that adequate help is provided to a child who needs learning support.
  • SENCO toolkit: Available on but more easily found by via the internet by searching on SENCO toolkit. Although written for schools it may be useful for parents to look at when making their case for extra help.
  • Septum: A dividing partition eg the wall of cardiac tissue between the chambers of the heart.
  • Shprintzen syndrome: Another name for VCFS, where the 22q11DS is usually discovered in childhood rather than babyhood. Named for Dr Robert Shprintzen.
  • Sibling: Family members who share at least one parent i.e. brothers and sisters.
  • Social skills: The ability to interact with other people either individually or in groups, the ability to make friends.
  • Special education: The education of children with either physical disabilities or learning difficulties within schools especially designed to give the support needed for the children to achieve their full potential.
  • Standardized test: Where a child's performance is compared to the performance of other children the same age.
  • Statement: Short for Statement of Special Educational Needs. This statement is prepared by staff within the local educational authority (LEA or LA in the UK) if a child appears to need extra help to keep up with its peer group. It will describe the child's Special Educational Needs (SEN) Any extra help needed should be laid down and once agreed the school is legally required to provide it either in mainstream education or in a school for special needs. Sadly in practice parents may have a long, hard battle with the educational authorities to get the help needed.
  • Submucosal cleft palate: A cleft in the palate that is covered by skin and not immediately visible. This may be discovered because a child has a split uvula or because of feeding and speech problems.
  • Syndrome: Apparently unrelated problems that are seen to occur together to make a pattern. A syndrome is often named after the first doctor who noticed the association or from the group of findings, hence DiGeorge syndrome and VCF syndrome.


  • T cells: Part of the population of lymphocytes which help protect against infection; they include killer, helper and suppressor cells. Patients with 22q11DS may have few of these cells as they lack an obvious thymus that trains the T cells to recognise infectious agents.
  • TBX-1 gene: This is a human gene which is located on chromosome 22 and the loss of a TBX-1 gene is implicated as being the cause for some of the problems seen in 22q11DS.
  • Tetralogy of Fallot TOF: A combination of four serious congenital heart defects that are frequently seen in 22q11DS children. The combination was first noted in 1672 but named after a French Dr Fallot who described it in 1888. See the handbook for more detailed information.
  • Therapy: Treatment to help alleviate or remove a problem
  • Thrush: Infection caused by the yeast Candida. It mainly affects moist areas of the body such as the mouth and genitals.
  • Thrombocytopenia: A decrease in the number of platelets in the blood, which means that blood may be slower to clot.
  • Thymus: A gland in the chest that helps fight infection by training the T lymphocytes. Many 22q11DS people don't have a normal thymus in the usual place and are slow to build up T cells in the blood.
  • Thyroid: A gland found in the neck that produces hormones that control many functions of the body. 22q11DS patients may have an underactive thyroid.
  • Trachea: Also called the "windpipe", this connects upper airway (mouth and nose) to the lungs.
  • Transition: In medical terms it means when a person moves from the care of a paediatrician to that of a doctor specialising in adults, usually around the age of 16 years or a little older. This can be a difficult time as many people will have a good working relationship with a paediatrician who has watched them grow up and then have to see a different doctor for each problem. Some hospitals are making plans for a changeover period but although there are a few multi-disciplinary clinics held for 22q11DS children no such services exist for adults.
  • Truncus Arteriosus: A congential heart condition where only one vessel arises from the ventricles instead of the normal two.
  • Tube feeding: see Enteral feeding


  • Ultrasound: see EchoCardiogram
  • Uvula: The flap of skin hanging down in the throat. It should prevent food from entering the nose when swallowing. A split or divided uvula can alert a doctor to the possibility of a sub-mucosal cleft palate. It is also involved with controlling air flow in speech.


  • VCFS Velo-Cardio-Facial Syndrome: Another name for 22q11DS that is usually applied when the problems present later with feeding and speech difficulties rather than cardiac and immune problems
  • that are detected soon after birth. It has been called the Sphrintzen syndrome, but Dr Sphrintzen prefers use of VCF Syndrome, possibly because his name is used to describe other syndromes.
  • Veins: Blood vessels taking blood back to the heart to be sent to the lungs to pick up oxygen (blue blood).
  • Velum: The soft palate, the rear portion of the roof of the mouth, it is used involved in speech and gives its name to the Velo of VCFS.
  • Vessel: see Blood vessel
  • Ventricles: The lower chambers of the heart that pump blood to the lungs and body
  • Vertebrae: The bones of the spine.
  • Visual-Spatial skills: The ability to process information from what we see e.g. a 2-dimensional picture will allow us to imagine a 3-dimensional object.
  • Vocalization: The ability to produce vocal sounds such as babbling or talking. (as opposed to crying)
  • VPI Velopharyngeal Incompetence: This is when the back of the palate and the throat fail to close the space connecting the mouth and nose during speech. As well as affecting speech it may allow both solid and liquid food to regurgitate through the nose.
  • VSD Ventricular Septal Defect: A hole in the wall separating the two lower chambers of the heart.