Children with Achondroplasia guidance for parents and health care professionals

PCHR INSERT FOR BABIES BORN WITH ACHONDROPLASIA
First Edition, July 2007
These are extra pages for your child’s Personal Health Record. They have been created especially
for babies and young children with Achondroplasia. They contain background information for
families and health care professionals, and guidelines and checklists for growth and development.

Children with
Achondroplasia
guidance for parents and health care professionals
Image reproduced with kind permission from the Dwarf Athletic Association United Kingdom
Document Version: PHR11-Achon-boy
Created: 24/06/06
Amended: 27/01/10

This project has been funded by a Department of Health Grant with additional support from Nowgen


© 2008—2010 Central Manchester and Manchester University Hospitals NHS Foundation Trust. All rights reserved. Not to be reproduced in
whole or in part without the permission of the copyright holder: Trust Headquarters, Cobbett House, Manchester Royal Infirmary, Oxford Road,
Manchester M13 9WL. Tel: 0161 276 1234 Fax: 0161 273 6211
North West Regional Genetics Service: 0161 276 6506 www.mangen.co.uk
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Contents
Different pages in this PCHR insert for Achondroplasia should be filled in by different groups of people. The contents
table and key below explain who needs to read or complete each page.
Page
Who fills this in? Page no.
Specialist Doctor Details
P, HCPs
3
Information for You and Your Family
KW
4
Caring for Young Babies and Children with Achondroplasia
Info only
5-7
Information for Healthcare Professionals
HCPs
8
Monitoring Your Child’s Growth (Birth to 6 months)
KW
9
Monitoring Your Child’s Growth (9 to 18 months)
KW
10
Monitoring Your Child’s Growth (2 to 5 years)
KW
11
Monitoring Your Child’s Growth (6 to 9 years)
KW
12
Key Investigations Checklist
KW
13
Details of Hospital Visits and Other Appointments
HCPs
14
Development Milestones
Info only
15
Growth Charts
KW
16-20
My Notes
P
21
Sources of Information
Info only
22
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Specialist Doctor Details
Children with Achondroplasia are often looked after by more than one specialist, and this page is a record of all the
doctors who are involved in caring for your child. If you visit a specialist doctor who isn’t listed, they should add
their details below.
Name
Title/Specialty
Address/Phone Number












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Information for You and Your Family
What is Achondroplasia?
How will My Child be Affected?
Professional Care
Achondroplasia is a genetic
The main difference found in
Usually a community or general
condition. It is caused by a fault in a achondroplasia is short stature, which is paediatrician, will have overall
particular gene called FGFR3.
due to shortening of the long bones of
responsibility for the care of your
Genes are responsible for individual the legs (femur and tibia). The average child’s health. In addition, there may
characteristics such as eye and hair adult height for an adult with
be another key worker who will have a
colour.
achondroplasia is between 3’8” (110
co-ordinating and support role where a

cm) and 4’9” (143cm).
number of difference professionals are
About 1 in 25,000 babies born in the
involved. Your child’s key worker is:
UK will have achondroplasia. In 75% A number of rare complications can

there is no family history of
occur in early life and regular
Name:
achondroplasia, in the remainder, monitoring of your child is important to
one or both parents have
ensure that problems are identified and
achondroplasia. A person with
appropriately treated. In the section

achondroplasia has a 1 in 2 , or 50% ‘Caring for Your Baby’ these risks are

chance of having an affected child. described in more detail along with


everyday handling strategies to

How is it Diagnosed
minimise these risks.
Contact Details:
Usually the diagnosis is

straightforward and is made by
Though it will take longer for your child
carefully examining x-rays of the
to reach developmental milestones such
skeleton. If there is any uncertainty as sitting unsupported, and walking
about the diagnosis, your doctor
alone, it is important to remember that
may carry out a genetic test to
people with achondroplasia have the
confirm the diagnosis.
same range of intelligence as the
general population and live full and
productive lives.
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Caring for Young Babies and Children with Achondroplasia
Important Information for Parents and Carers
Avoiding Spinal Curvature
A number of rare complications involving the head, neck
A small gibbus (C’ shaped or curved spine) is present

and spine can occur in early life. Monitoring for these
in most infants with achondroplasia and will resolve

allows early diagnosis and treatment, and may prevent
with standing. This becomes fixed in a small number

some of the adult complications. Babies and young
and then contributes to spinal problems in adult life.

children with achondroplasia should be handled
Research has demonstrated that avoiding unsupported

differently to try and minimise these risks.
sitting in babies and young children with


achondroplasia minimises this risk.

Limiting Uncontrolled Head Movements

The head of infants with achondroplasia is relatively large

and requires good support until independent sitting is
The baby’s lower spine is

curved. This is more noticeable
achieved. The foramen magnum (opening through which
when the baby is sitting in an
the spinal cord passes into the base of the skull) is
upright position.
narrower in babies and children with achondroplasia.
Uncontrolled head movements can ‘squash’ the spinal
cord causing damage to the nerves and arteries in the
spinal canal. A scan will be carried out in early life to
look at the size of this opening, and the size of the fluid
filled spaces (ventricles) in the brain.

Hydrocephalus
The fluid filled spaces in the brain (ventricles) are large
When the baby lies down
in people with achondroplasia. Your doctor will monitor
the curve flattens out.
this by regular measurements and a base-line scan.
The is a much better
Sometimes fluid flow can be obstructed and surgery is
position for babies with
required. Symptoms which might suggest this and are a
achondroplasia.
reason for urgent referral are: a bulging soft spot,
persistent irritability, vomiting or lethargy or apparent
headaches.
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Caring for Young Babies and Children with Achondroplasia
Providing Adequate Head and Spine Support
Car Seats
The infant with achondroplasia should be nursed on a firm
Should have a firm back and
surface as much as possible. Babies must be properly
neck support and be rear
supported when sitting is essential. Soft canvas baby
facing for as long as possible.
rockers and bouncinettes , baby walkers, carriers and
Seats which adjust to allow
strollers do not provide enough neck and spine support and babies to lie flat are a good idea
should not be used.
for babies.
Play
Playground swings and infant bouncers, the sort you
have on a hook from the door frame should be
avoided, as should trampolines. Care should be taken
with any activity that places a strain on the
neck, e.g. baby gymnastics.





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Caring for Young Babies and Children with Achondroplasia
Growth
Anaesthesia
Special growth curves are included in this booklet and
Throughout life, anaesthesia in people with achondroplasia
should be used to monitor growth. Monitoring weight is requires extra care, particularly with positioning of the
also important. Failure to gain adequate weight in
head and neck and use of appropriate dosages for size.
infancy can be a sign of an underlying complication and
Spinal and epidural anaesthesia should generally be avoided.
should be investigated. In older children it is important
to maintain an appropriate weight as obesity may be a
Breathing Complications
problem in adult life. Healthy eating habits and
Snoring is common in young children with achondroplasia
appropriate regular exercise should be encouraged from and by itself is not something to worry about. Because
an early age. Growth hormone does not appear to make respiratory problems are common, a screening sleep study
a difference to final adult height.
will be organised. This should be repeated if you notice any

change in breathing patterns such as big pauses between
Dental
breaths, loud snoring, daytime sleepiness, deep sighs during
Differences in the shape of the face and palate may lead sleep.
to overcrowding of the teeth and bite abnormalities.

An orthodontic assessment should be carried out around Hearing
the age of five years and repeated subsequently as
The shape of the inner ear is different in achondroplasia
recommended by the orthodontist.
and accumulation of fluid in the middle ear (‘glue ear')

and ear infections are common. Regular monitoring of
Orthopaedic Issues
hearing is important throughout infancy and childhood.
Instability around the knee, bowing backwards of the
In the presence of language delay, hearing loss should
knee and sideways bowing of the lower limbs is common. be excluded. Ear examination is recommended in the
This is most obvious in the second year of life.
presence of symptoms suggesting infection.
This rarely requires treatment, and usually improves

with age. However in the presence of persistent pain on Psychosocial
exercise, orthopaedic assessment is needed. Flexion
Parents may find it helpful to meet other families. Your
contracture at the hips can occur in infancy and can be
regional genetics service may facilitate this. The RGA is a
minimized with appropriate exercises. The other joints good source of support and information.
tend to be loose with the exception of the elbows where Contact details are on page 20.
a mild inability to straighten the arm is common.

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Information for Healthcare Professionals
Diagnosis and Follow up
Monitoring and Review
Achondroplasia is the commonest skeletal dysplasia asso- Adults and children with achondroplasia have normal
ciated with severe disproportionate short stature. It is an intelligence and life expectancy and lead independent and
autosomal dominant condition occurring in approximately productive lives.
1 in 25,000 and is due to a mutation in the FGFR3 gene,
with most being new dominant mutations. An affected
There are some particular health risks that require monitoring
parent has a 50% risk of passing on the gene to offspring. and vigilance. The commonest overall is spinal cord stenosis
If both parents are affected, there is also a 25% risk of a
with compression of the spinal cord or nerve roots in adult life.
child inheriting two copies of the faulty gene. This re-
Development of a fixed gibbus in childhood is thought to
sults in a different and more severe skeletal dysplasia.
contribute to this, hence the importance of avoiding unsup-

ported sitting in childhood.
Diagnosis

The diagnosis is based on characteristic clinical and ra-
In childhood, the commonest complications are delayed motor
diological findings. The X-rays should be reviewed by a
milestones and otitis media (glue ear).
paediatric radiologist. Genetic testing is indicated where
the diagnosis is unclear or with an atypical phenotype.

Serious complications in early childhood include cranio-cervical
The Role of the Regional Genetic Service
junction compression and upper airway obstruction.
A Clinical Geneticist is often involved in the diagnosis of
Investigation and monitoring in early childhood are vital in
Achondroplasia. They also have a role to play in ensuring early diagnosis and treatment of these serious complications.
children receive appropriate follow up including genetic
Special care needs to be taken if anaesthesia is necessary for
counselling and education for families and professionals. surgery or imaging.

Copies of detailed review guidelines are available from: www.mangen.co.uk
Normal development milestones are included on page 15. Failure to achieve these and/or
persistent severe hypotonia or other abnormal neurological signs, failure to thrive, or abnormal
breathing patterns warrant URGENT REFERRAL.
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Monitoring Your Child’s Growth (Birth to 6 months)
Your child’s doctor will measure height, weight and head circumference at each visit and compare
these with the special growth charts at the back of the booklet.

Birth
2 Months
4 Months
6 Months
Date:
Date:
Date:
Date:
cm centile
cm centile
cm centile
cm centile
Height








Weight








Head Circ







Signature



Comments



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Monitoring Your Child’s Growth (9 to 18 months)
Your child’s doctor will measure height, weight and head circumference at each visit and compare
these with the special growth charts at the back of the booklet.

9 Months
12 Months
15 Months
18 Months
Date:
Date:
Date:
Date:
cm centile
cm centile
cm centile
cm centile
Height








Weight








Head Circ







Signature



Comments



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