Congenital & Genetic Conditions

Updated: 23.03.2020

Contact a Family
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)

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

Unique - The Rare Chromosome Disorder Support Group
Unique provide support and information to families of children with rare chromosome disorders, and professionals. Downloadable leaflets are available online for individual chromosome disorders.


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

AVM Survivors
AVM Survivors are an online support group

BSS – Bernard-Soulier Syndrome
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. For information on blood disorders go to

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

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

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)

NHS – Congenital Heart Disease
Information on heart conditions present at birth, and treatments.

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.

CLAPA - The Cleft Lip and Palate Association
CLAPA offer information and answers to some of the most commonly asked questions about cleft lip and palate.

Cystic Fibrosis Trust
Provides information about Cystic Fibrosis.
Helpline: 0300 373 1000 (lines open Monday - Friday 9.30am – 1.30pm, Tuesday & Thursday till 4.30pm)

Cystic Fibrosis Medicine
Further information on Cystic Fibrosis for anyone suffering from this condition, their families and health care professionals.

DEBRA – Dystrophic Epidermolysis Bullosa (EB)
Information and support on the group of genetic skin conditions known as EB.

NHS information on Dyspraxia, a common disorder that affects movement and coordination.

Dyspraxia Foundation
Information on sources of local support, features a range of leaflets and books
Helpline: 01462 454 986 (lines open Monday – Friday 9am – 1pm)

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)

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.

Marfan Syndrome
Information and support for those living with Marfan syndrome.

Muscular Dystrophy
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 (Monday – Friday 8.30am – 6pm)

Noonan Syndrome Association
Advice and support for families affected by Noonan Syndrome.

Pfeiffer’s Syndrome - Headlines
The UK craniofacial support group

Rett Syndrome Research Trust
Providing information about Rett Syndrome and its treatment.

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)

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.
Tourette Action
Information and support for anyone affected by Tourette Syndrome.
Helpline: 0300 777 8427 (lines open Monday, Tuesday, Wednesday 9am – 3pm, Thursday 9am – 8pm)

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

Tuberous Sclerosis Association – TSA
TCA 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)

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.


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

Action For Sick Children
Campaigning organisation for child healthcare, with downloadable guide about consent for parents and children.

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)