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The bone dysplasia clinic provides diagnostic advice and tertiary management for children with bone dysplasias.

Bone dysplasias are rare genetic disorders affecting skeletal development and typically present with skeletal abnormalities such as  limb or spine deformities, short stature, or bone fragility.

The Cardiac Genomics Clinical Service at The Children’s Hospital at Westmead provides a specialised service for patients and their families with cardiac genetic conditions including inherited arrhythmia, cardiomyopathies and congenital heart defects.

For more information about the cardiac genetic clinics see the Inherited cardiac conditions information sheet. 

Our service has four streams 

1. Cardiomyopathy clinic 

Referral criteria:

• a child with a personal history of cardiomyopathy, with no definitive underlying cause found on investigation
• a confirmed cardiomyopathy in first degree relative with known causative variant for consideration of predictive genetic testing in a child. A paediatric cardiac assessment is required prior to proceeding with genetic testing.

2. Congenital Heart Disease (CHD) clinic 

Referral criteria:

• a child with a personal history of CHD with one or more first or second degree relatives with CHD
• a child with a personal history of CHD with structural extra-cardiac anomalies and/or moderate developmental delay/intellectual disability.

3. Inherited Arrhythmia (IA) clinic 

Referral criteria:

• a child with a suspected or confirmed diagnosis of an inherited arrhythmia, for example long QT syndrome, Brugada syndrome, CPVT. 
• confirmed inherited arrhythmia in a first degree relative with known causative variant for consideration of predictive genetic testing in a child. A paediatric cardiac assessment is required prior to proceeding with genetic testing.

4. Sudden and unexplained death in childhood 

Appointments are part of the general genetic clinic.

Referral criteria:

• unexplained death in childhood, including post mortem examination. 

The connective tissue dysplasia (CTD) genetic clinic provides a tertiary diagnostic advice for connective tissue disorders such as Marfan syndrome or genetic forms of Ehlers-Danlos syndrome.

The Clinical Genetics Department does not provide ongoing management for children with connective tissue dysplasias. 

Please Note: Ehlers-Danlos syndrome type 3, hypermobility and/or joint laxity must have one or more of the below to be eligible for referral:

• personal or family history of one or more of the following ‘red flagsâ€�, in the presence of hypermobility (Beighton score >4 in adults, >6 in children)
• echocardiogram evidence of thoracic aortic enlargement, vascular dissection or extensive varicosities
• ectopia lentis
• extensive widened atrophic scars and poor would healing/ recurrent large hernias
• severe scoliosis
• personal/family history of organ rupture
• recurrent pneumothoraces.

The clinic is responsible for the diagnosis, genetic testing and genetic counselling of children with prominent dermatologic features e.g. ectodermal dysplasias, vascular malformations, hypopigmentation or hyperpigmentation (not suspected NF1). 

Consultant dermatologists join in diagnostic assessment and provide skin treatment advice as indicated.

The Genetic Eye Clinic is responsible for the diagnosis, assessment and genetic counselling of children and families with genetic eye disorders.

Patients and relevant family members may be seen by a combination of ophthalmology and genetic professionals.

The Genetic limb clinic is responsible for the assessment of children with congenital limb abnormalities, for diagnosis, genetic investigation and genetic counselling.

Please note: Patients referred to both genetics and Kids Rehab will be seen at a same day appointment wherever possible. In addition, a separate referral to a Kids Rehab is usually required for all new referrals.

Phone: (02) 7825 2131 (Kids Rehab)

Email: [email protected]

This clinic is responsible for the investigation, diagnosis, management and genetic counselling of children with a known or possible genetic condition (that are not served by sub-specialty clinics).

The following are not appropriate referrals:

• children with autism without intellectual disability, a relevant family history or unusual facial features (chromosome microarray, Fragile X and Urine metabolic screen should be performed by the managing doctor)
• chromosome microarray (CMA) showing variants of uncertain significance (VUS) with no disease associated genes included, or long contiguous stretches of homozygosity (LCSH).

Please note if your patient does not meet our referral criteria but you would like advice, or think they would benefit from a genetics consultation, please contact us.

The Neurogenetics Clinic is a multidisciplinary service responsible for diagnosis, management and genetic counselling of children with neuromuscular disorders and complex neurocutaneous disorders - neurofibromatosis type 1 (NF1), schwannomatosis (NF2 related and other) and tuberous sclerosis.

Referrals for initial diagnosis of uncomplicated neurocutaneous disorders, including neurofibromatosis, will be directed to the genetics service of the individual’s local health district. 

We provide ongoing multidisciplinary management of children with ‘complex� NF1 which includes children with:

• growing/painful plexiform neurofibroma 
• optic pathway tumour
• central nervous system/spinal cord tumour
• epilepsy
• pseudoarthrosis
• receiving investigational drugs
• heavy disease load (multiple comorbidities).

The Paediatric Cancer Genetics Clinic supports the diagnosis, genetic counselling, and management of cancer predisposition syndromes (CPS) in children and their families. 

Cancer predisposition syndromes are health conditions caused by genetic changes, that make an individual more likely to develop cancers over their lifetime. Not all people with a cancer predisposition syndrome will develop cancer.

Our team consists of genetic counsellors, paediatric oncologists and clinical geneticists. An appointment generally consists of a discussion about:

• why a cancer predisposition syndrome is being considered
• what the associated cancer risks may be
• how these associated cancer risks are best managed.

Attending an appointment does not mean that genetic testing will or must occur.

Referral criteria:

•  child who has had or is currently having treatment for cancer at CHW and meets the current for genetic referral
• a child who lives in WSLHD and is suspected to have a cancer predisposition syndrome (CPS) due to non-malignant features suggestive of a CPS
• a child who lives in WSLHD and is seeking predictive testing for a known familial CPS. Please note, predictive testing in childhood is generally limited to conditions in which cancer screening commences in childhood
• there are circumstances in which a child who does not meet the above referral criteria will be seen. Please contact the department with enquiries.

Please note: Referrals for older children, such as teenagers 16 years and upwards, may be redirected to the Familial Cancer Service at Westmead Adult Hospital in discussion with the Familial Cancer Service and family.

The Prenatal clinic is for pregnant couples residing in WSLHD who have a personal or family history of an inherited condition, or a fetal  abnormality suggestive of an underlying genetic disorder.

Due to the urgent nature of these cases, please call our department on (02) 7825 3273 to check the referral has been received. Please indicate preferred language if an interpreter is required.

Please note: We do not accept referrals for:

• couples or individuals for reproductive genetic carrier screening without a family history of a recessive genetic disorder
• pregnant women with a high risk due to advanced maternal age or first trimester screening investigations, who have not yet had a diagnostic test
• couples who have had recurrent miscarriages where the cause is not due to a chromosomal anomaly
• consanguinity
• teratogen exposure.

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to speak to the on-call genetic  counsellor or clinical geneticist.

The Clinical Genetics department at The Children's Hospital at Westmead provides regular outreach clinics to adults and children of the Western NSW Local Health District, with clinics in Orange and Dubbo.

The clinics are coordinated by the local genetic counsellors.

Please note: If patients live closer to another clinical genetics service which can offer an appropriate service for the patient, we may  recommend contacting that service.

Western NSW Genetics Service:

Email: [email protected]

• Bathurst Community Health Centre
  • Howick Street Bathurst NSW 2795
  • Phone: 02 6330 5677 | Fax: 02 6330 5742
• Dubbo Community Health Centre
  • 2 Palmer Street Dubbo NSW 2830
  • Phone: 02 5853 2500 | Fax: 02 5853 2580