Von Hippel-Lindau (VHL) disease is a rare genetic disorder in which tumours and cysts occur in a variety of organs. Most frequently these are the cerebellum (hind part of the brain), the spinal cord, the kidneys, the pancreas (a gland situated below the stomach) and the retina (a light-sensitive film at the back of the eye). Angiomas (enlarged blood vessels) can occur on the retina, while haemangioblastomas (benign (non-cancerous) cystic or solid tumours) may occur in the cerebellum or spinal cord. Kidney tumours and cysts are common and early detection of kidney tumours is important as these can become cancerous. Phaeochromocytomas, tumours of the inner part of the adrenal gland, occur in about ten per cent of patients, pancreatic tumours in up to ten per cent and endolymphatic sac tumours (part of the inner ear) causing deafness occur in up to five per cent of patients. Cysts in the pancreas and (in males) the epididymis (a narrow, tightly-coiled tube behind the testicle) are common, but rarely cause clinical problems.
Last reviewed March 2014 by Professor ER Maher, Professor of Medical Genetics, Centre for Rare Diseases and Personalised Medicine, University of Birmingham Medical School, Birmingham, UK.
The symptoms vary greatly in individual cases. This means that in different generations, or among siblings, affected individuals will not have the same organ affected, for example, one individual may have an affected kidney, whilst in another individual, the eyes are affected. Early childhood onset is infrequent, but can occur and so surveillance should be started in the first few years of life if VHL is suspected due to family history. Most people with VHL develop clinical complications between the ages of 15 to 30 years but, in some cases, no effects are noted until after 50 years of age. It is therefore important that all individuals at risk are offered screening for subclinical involvement (involvement that is not apparent in general clinical examination). Detailed information and advice on screening and follow-up is available from local genetics centres.
The gene responsible for VHL is on chromosome 3 and was identified in 1993.
Pre-symptomatic diagnosis is available to most families by direct gene sequencing, and other relatives can be tested once a mutation is found in a family.
Treatment is dependent upon the type and severity of symptoms, but may involve surgery, regular screenings, and preventative measures.
Inheritance patternsAutosomal dominant, new mutations may also occur.
Prenatal diagnosisNot usually requested but possible in many cases by DNA testing.
Hosted by the VHL Family Alliance (VHLFA) based in the USA, this group offers support for VHL, hereditary leiomyomatosis and renal cell cancer (HLRCC) and Birt-Hogg-Dubé (BHD) syndrome. Help and support via telephone, email, and internet is available to people throughout the United Kingdom and Ireland. Please use one of the following methods to contact the group:
Phone: 0808 189 0891 freephone in England, Scotland, Wales, and Northern IrelandEmail: firstname.lastname@example.orgWebsite: vhl.org/uk
Phone: +00 353(0) 402 37232 (Ireland – Gloria Proby)Email: email@example.com
Group details last updated October 2015.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.
To meet other parents see support groups below or meet other parents online in our closed Facebook group
Please see below for reliable medical information on Vitiligo produced by alternative providers.
Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.
Email: via websiteWebsite: vitiligosociety.org.uk
The Society is a Registered Charity in England and Wales No. 1069607. It provides information and support to people with vitiligo. The Society holds workshops where people with vitiligo are supported, given the latest information about the condition and have the opportunity to meet others.
Group details last reviewed September 2023.
Vein of Galen malformation (VGM) is a rare arteriovenous malformation (AVM – an abnormal direct connection between arteries and veins) in the brain. High pressure blood flows directly from arteries into veins without slowing down and without releasing its load of oxygen and nutrients – a process called arteriovenous shunting.
Last updated May 2014 by Dr V Ganesan, Senior Lecturer and Honorary Consultant Paediatric Neurologist, UCL Institute of Child Health, London, UK.
Blood is diverted away from other organs into the VGM; this results in failure of these organs, such as the heart. It is also difficult for the veins to do their job of soaking up and circulating water from the brain and so fluid may collect within the brain (see entry hydrocephalus). There is also a risk of bleeding from the abnormal vessels, although this is relatively low.
The symptoms of VGM will vary between individuals, although some patterns are recognised:
This is not currently known.
Brain scans will show the VGM and any associated effects on the brain. A cerebral angiogram (where pictures of brain blood vessels are taken after injection of dye) is usually carried out to confirm the diagnosis.
Treatment of children with VGM consists of closing the abnormal communications between arteries and veins, as well as treatment of secondary complications, such as heart failure. Closure of the abnormal communications is undertaken in a procedure known as embolization. This involves injection of fast-setting glue directly into the point of abnormal artery-vein communication(s). Secondary effects are dealt with using medication and by dealing with the underlying VGM.
Inheritance patternsIn general, VGM is not a condition that runs in families and its causes are not clearly known. There are a very small number of cases described with changes in a gene called RASA1; these people also have red flat birthmarks on the skin. It is unlikely that changes in RASA1 account for the majority of cases with VGM but you may wish to discuss the relevance of this with your child’s doctor.
Prenatal diagnosisIt is possible that, in some cases, VGM can be identified on an ultrasound scan. If this is the case, other assessments may include more detailed scanning of the mother and baby. Usually these assessments will be undertaken by a specialist in fetal medicine.
Tel: 01963 34393Email: firstname.lastname@example.orgWebsite: veinofgalen.wordpress.com
The Group is a parent support group, established in 1999. It offers support and information and links families where possible. The Group works to increase awareness of this rare condition within the medical profession. It offers an online forum via its website and is in contact with parents worldwide.
Group details last updated November 2014.
Please see below for reliable medical information on Vascular Birthmarks produced by alternative providers.
NHS websitewww.nhs.uk/conditions (general)
Patient UKwww.patient.info/health (port wine stains)
Tel: 07825 855 888Email: email@example.comWebsite: birthmarksupportgroup.org.uk
The Group is a Registered Charity in England and Wales No. 1090952, set up by parents of children with vascular birthmarks. It provides support and information to anyone who has a birthmark, and their family and friends. The Group ensures a better understanding amongst the medical profession about types of birthmarks, possible complications and treatment, not only of the birthmark but of the whole person. It aids research into the cause of birthmarks (so far unknown) and possible cures, raises general awareness and acceptance, and eases the path through school by educating teachers and pupils.
‘VACTERL’ is the name for a group of developmental defects that often occur as a group (or ‘association’) in newborn babies.
Medical text written December 2005 by Mr Bruce Jaffray, Consultant Paediatric Surgeon, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Babies with health problems in three or more of the seven following areas are identified as having VACTERL:
Whilst the term ‘VACTERL’ is not in itself a ‘diagnosis’, the list of anomalies that occur together helps medical professionals to know what to look for. The severity of the defects can vary considerably from one individual to another.
As well as the problems listed above, there may be associated endocrinopathies (problems with the endocrine system).
Inheritance patterns VACTERL Association occurs sporadically.
Prenatal diagnosis Ultrasound scanning can reveal the radial anomaly and oesophageal atresia.
Tel: 01752 482568Email: firstname.lastname@example.orgWebsite: vacterl-association.org.uk
The Group is a parent led support group, established in 2003. It offers information and support to parents, carers and children with VACTERL Association. Has private members online forums through its website and provides opportunities to meet other families.
Support and information on VATER and VACTERL Association is also available from TOFS (see entry Tracheo-oesophageal Fistula and/or Oesophageal Atresia).
Also known as: Acoustic Neuroma
A vestibular schwannoma is a benign (non cancerous), usually slow growing, brain tumour and accounts for six to ten per cent of all brain tumours. Vestibular schwannomas affect approximately 1 in 70,000 persons per year.
The cells that form a vestibular schwannoma are called Schwann cells and make up the lining of the eighth cranial nerve as it passes through a tiny canal, which connects the inner ear to the brain. Unknown events lead to an overproduction of Schwann cells, which as they multiply, form a small tumour, which fills the canal.
Early symptoms can be easily overlooked, making diagnosis a challenge. The first symptom in over 90 per cent of patients is a reduction of hearing in one ear, sometimes accompanied by tinnitus. The loss of hearing is usually slight and worsens slowly, although sudden hearing loss has been known.
Other symptoms may be a feeling of fullness in the ear, but very rarely any pain. Unsteadiness and balance problems may occur and facial sensation may be affected, causing tingling and numbness. A large tumour can cause headaches due to a rise in pressure within the brain.
Physical examination may identify some signs such as unilateral (one sided) facial drooping or unsteadiness on walking, but a diagnosis of acoustic neuroma is usually made following a neurological assessment, taking the individual’s history and performing other tests such as a magnetic resonance imaging (MRI) scan and hearing tests.
Monitoring – if the vestibular schwannoma is small and the patient has adjusted to living with the symptoms, then it may be appropriate to monitor the growth rate of the tumour through periodic MRI scans. It is not uncommon for vestibular schwannomas to show no significant growth when observed over a number of years.
Surgery – is often done by a neurosurgeon (brain surgeon) and a neurootologist (ear surgeon). Removal of the tumour may be approached from behind the ear (sub-occipital or posterior fossa), the mastoid and inner ear structures (translabyrinthine) or above the ear (middle fossa). The choice depends on the location and size of the tumour, degree of residual hearing and the surgeon’s operating preference.
Radiation – this is a non-invasive treatment and is used where the specialist considers it to be appropriate. Radiation does not remove the tumour but damages the DNA so that the cells forming the tumour cannot reproduce. The success or otherwise of the treatment takes about 12 months to two years to determine. A total of 90 per cent of tumours will be controlled with radiation but they will need long-term surveillance.
Inheritance patternsThere is a known association of vestibular schwannoma with neurofibromatosis type 2 (NF2), which is a genetic disorder that is caused by a misprint in a single gene on chromosome 22.
Prenatal diagnosisNot yet possible.
If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.
We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.
We’ve listed a support group below and you can also meet other parents online in our closed Facebook group.
Tel: 0800 652 3143Email: email@example.comWebsite: bana-uk.com
The Association is a Registered Charity in England and Wales No. 1024443. It provides information and support to people affected by acoustic neuroma and the interrelated conditons, symptoms and effects. The Association hosts a number of branch and support groups throughout the UK for members, their families and non-member guests to attend.
Group details last updated December 2014.
Medical text written September 2010 by the Acoustic Neuroma Association. Approved September 2010 by Mr Nigel Mendoza, Consultant Neurosurgeon, Charing Cross Hospital, London, UK.
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