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Congenital & Genetic Conditions

Updated: 13.12.2023
This section covers support for:
- General conditions support
- Specific conditions support
- Hospital and End of life information

General conditions support

Contact 

Contact a Family give information and support for all conditions affecting children. A directory of specific conditions and rare disorders can be found online.
Helpline: 0808 808 3555 (lines open Monday – Friday 9.30am - 5pm)
Email: helpline@contact.org.uk

Unique - The Rare Chromosome & Gene Disorders Support Group 

Unique provide support and information to families of children with rare chromosome and gene disorders, and professionals. Downloadable leaflets are available online for individual chromosome disorders.
Email: info@rarechromo.org


Well Child 

Support for families caring for a seriously ill child or young person. 

Specific conditions support 

Achondroplasia 

Information from Great Ormond Street Hospital on Achondroplasia, the most common type of short limb condition. 

Bernard-Soulier Syndrome - BSS

Bernard-Soulier syndrome is a rare inherited disorder of blood clotting characterised by unusually large platelets, low platelet count and prolonged bleeding time. Affected individuals tend to bleed excessively and bruise easily. Information on blood disorders 

Brittle Bone Society 

Membership organisation providing support to people affected by the bone condition Osteogenesis Imperfecta (OI). 

Bubble Foundation UK 

Support for families of children born with Severe Combined Immune Deficiency Syndrome (SCID) or other conditions requiring bone marrow transplants. 

Bullosa (EB) 

Information and support on the group of genetic skin conditions known as EB.

Cerebral Palsy – SCOPE 

Information about Cerebral Palsy from SCOPE.

Children’s Heart Federation 

Supporting children and young people with congenital and acquired heart conditions, as well as their families.
Information Line: 0300 561 0065 (lines open Monday – Friday 9.30am – 5pm)

The Cleft Lip and Palate Association - CLAPA 

CLAPA offer information and answers to some of the most commonly asked questions about cleft lip and palate. 

Congenital Heart Disease - NHS 

Information on heart conditions present at birth, and treatments.

Cystic Fibrosis Trust 

Provides information about Cystic Fibrosis.
Helpline: 0300 373 1000 (lines open Monday - Friday 10am – 4pm)

Down’s Syndrome Association 

Information and support across all aspects of living with Down’s syndrome.
Information: 0333 1212 300 (lines open Monday – Friday 10am – 4pm)
Email: info@downs-syndrome.org.uk 

Ehlers-Danlos Syndromes - EDS 

Information and support for those affected by Ehlers-Danlos Syndromes, a group of 13 genetic conditions affecting the body’s connective tissue. 
Helpline 0800 907 8518 (lines open Monday – Friday 9am -3pm)

Klinefelter’s Syndrome Association 

Support and information for those affected by Klinefelter’s Syndrome (KS or XXY). An under diagnosed congenital condition caused by an additional chromosome.

Lagan’s Foundation 

Supporting parents at home, and in hospital, with babies and children under 5 who are diagnosed with Heart Defects (CHD) or feeding difficulties. 

Little People UK 

Information and support for people with dwarfism and their families.  Awareness of dwarfism and campaigning for little people to be portrayed in a positive way. 

Marfan syndrome - NHS 

Information about Marfan syndrome.

Muscular Dystrophy - NHS 

NHS information on the group of inherited genetic conditions called MD – Muscular Dystrophy.

Muscular Dystrophy UK 

Information and support for those affected by a muscle wasting condition.
Helpline: 0800 652 6352 (lines open Monday – Friday 10am – 2pm) 

Noonan Syndrome Association 

Advice and support for families affected by Noonan Syndrome.
Email: info@noonansyndrome.org.uk 

Pfeiffer’s Syndrome - Headlines 

The UK craniofacial support group
Email: info@headlines.org.uk 

Rett Syndrome Research Trust 

Providing information about Rett Syndrome and its treatment.
Email: enquiries@reverserett.org.uk 

Shine - Spina Bifida & Hydrocephalus 

Offering supporting to individuals and families who are coping with Spina Bifida and Hydrocephalus.

Sickle Cell Disease 

Support and information for Sickle Cell Disease.

Scoliosis Association 

Providing support and advice for anyone affected by scoliosis.
Helpline: 0208 964 1166 (lines open Monday – Friday 9.30am – 5.30pm)

The Arthrogryposis Group - TAG 

TAG is a support group for anyone who has the condition Arthrogryposis Multiplex Congenita.
Email: help@arthrogryposis.co.uk 

The Restricted Growth Association 

Supporting families of children diagnosed with achondroplasia or restricted growth.
Helpline: 0300 111 1970 (Monday - Friday 9am-5pm, leave message and you will be called back)
Email: office@restrictedgrowth.co.uk 

Tourette Action 

Information and support for anyone affected by Tourette Syndrome.
Email: help@tourettes-action.org.uk
Live chat: Monday – Friday 10am – 3pm

Tourette Syndrome Information 

Great Ormond Street Hospital series of information packs on TS for families, young people and teachers.

Tuberous Sclerosis Association – TSA 

TSA support for anyone affected by TSC as well as their families and carers. 

Usher Syndrome 

Information and support for Usher Syndrome from Sense.
Information line: 0300 330 9256 (Monday – Friday 9am – 5pm)
Sign Language interpreter available online. (Monday – Friday 9am – 5pm) 

Weaver Syndrome - Child Growth Foundation

Information and support from Child Growth Foundation on this newly recognised syndrome caused by a genetic mutation. 

Williams Syndrome Foundation 

Providing support advice for this rare disorder.

Zika Virus 

NHS information on Zika virus disease and it’s possible effects, particularly for pregnant women.

Hospital and End of life care information

Intensive Care Units 

NHS information on Intensive Care Units – ICUs ,also called ITUs and CCUs.

Together For Short Lives 

Working for all children with life-threatening and life-limiting conditions and all those who support, love and care for them. Website includes search for palliative care in your area and an information request form.
Helpline: 0808 8088 100 (lines open Monday – Friday 10am – 4pm)
Live Chat: Online Monday – Friday 10am – 4pm