How can the foundation
help?


Information on genetic
testing
Liaison with healthcare
professionals

Advice on educational
needs

Information on accessing
social support and benefits

FOR MORE INFORMATION AND
SUPPORT WITH JEUNE SYNDROME
CONTACT:
The Jeune Syndrome Foundation
4 Loudoun Road
Littlehampton
West Sussex
BN17 7BG
jeunessyndromefoundation@gmail.com
The Ciliopathy Alliance
Help with managing
ongoing Jeune Syndrome
care
35
40
45
50
55
91 Royal College Street
London
NW1 0SE
info@ciliopathyalliance.org
Jeune
Syndrome
What you
need to know
What is Jeune Syndrome?
Jeune Syndrome is a rare
recessively inherited genetic
condition that is also sometimes
called Asphyxiating Thoracic
Dystrophy. Jeune Syndrome
occurs when two faulty copies of
a gene come together in an
individual, usually one inherited
from each parent. If both parents
are carrier of a faulty copy of a
Jeune gene, children conceived
have a 25% risk of developing the
condition.
In the UK 1 in every 100,000 births
results in a child with Jeune
Syndrome with an estimated 600
people in the UK with Jeune
Syndrome today.
Possible Complications
Jeune Syndrome is a complex
developmental condition which can
affect multiple organs and systems
presenting with various physical
signs and symptoms, the most
common being Respiratory – restrictive
pulmonary disease due to thoracic
dystrophy
 Kidneys – Cystic dysplasia or
nephronophthisis
 Liver – Dysgenesis, cirrhosis or
fibrosis
 Eyes –Retinal degeneration
 Skeleton – Skeletal dysplasia:
mainly affecting the ribcage
Although some people with Jeune
Syndrome may develop all of these
complications many develop only a
few.
Jeune Syndrome is thought to result
from dysfunction of tiny antenna-like
Structures on cells called “cilia”.
Ongoing care
The following things should
be routinely checked by your
specialist healthcare team –
 Respiratory – Spirometry
and lung volume tests
 Kidneys – Urinary and
blood tests. Abdominal
ultrasound
 Liver – Liver function tests,
abdominal ultrasound
 Eyes – Electroretinogram
 Skeleton – Cervical spine
MRI, spine and hips x-ray
Due to multi organ system
involvement it is important
that ongoing care is delivered
in a multi-disciplinary
approach. If you need help
managing ongoing Jeune
Syndrome care contact the
Foundation.