While we aim to keep all lists of links of high quality, the inclusion of a link does not imply that ANZSPED endorses or otherwise approves that site or the information contained therein. Members must make their own judgment about any information that they obtain from any linked site
Last comprehensive update completed on 3 September 2020.
Guidelines and Consensus Statements
Genetic Tests
For genetic tests available in Australia and New Zealand, please visit Royal College of Pathologists of Australasia (RCPA) Genetics Tests & Laboratories.
If you are aware of any endocrine or diabetes related genetic tests available in Australia or New Zealand not on this list please notify both APEG and/or RCPA.
Professional Societies
- Royal College of Pathologists of Australasia (RCPA)
- Human Genetics Society of Australasia
- Genetics Society of Australasia
- Genetics Professional Societies Worldwide listing
- International Federation of Human Genetics Societies
- European Society of Human Genetics (ESHG)
- American Society of Human Genetics
Support Groups and Syndrome Specific Links
For growth charts for various syndromes, click here
If the condition of interest is not listed below, then please visit one or more of the following sites:
- Genetic & Rare Disease Information Centre
- Online Mendelian Inheritance in Man (OMIM)
- Rare Disease Database (National Organisation for Rare Disorders)
AdrenoLeukodystrophy (ALD)
- Leukodystrophy Australia
- Adrenoleukodystrophy information – National Organisation for Rare disorders
- Stop ALD Foundation
- Adrenoleukodystrophy Foundation
Beckwith-Wiedemann Syndrome
- Beckwith-Wiedemann Support Group (UK)
- Beckwith-Wiedemann Syndrome information – Genetic & Rare Disease Information Centre
CHARGE Syndrome
- CHARGE Syndrome Association of Australasia
- CHARGE Syndrome Foundation USA
- CHARGE Syndrome information page (US National Library of Medicine – Genetics Home Reference)
- CHARGE Syndrome – a guide to assessment and diagnosis (rasisingchildren.net.au the Australian parenting website)
- CHARGE Syndrome information page (NORD: National Organisation for Rare Diseases)
Down Syndrome
- Down Syndrome Australia
- New Zealand Down Syndrome Association
- National Down Syndrome Society (USA)
- Down Syndrome Association (UK)
- UK Down Syndrome Medical Interest Group (DSMIG)
- 21 Gifts – Welcome to life with a little extra – A kindness project aiming to change the narrative surrounding a child diagnosis. By partnering with hospitals in Australia and New Zealand, we enable health professionals to join the celebration of babies born with T21 from the very beginning. All through a simple gesture: A welcome-to-the-world suitcase bursting with hope!
Growth Disorders
- For growth related support groups, click here
Kabuki Syndrome
- Information to come
Kallmann Syndrome
- Kallmann Syndrome information Genetic & Rare Diseases Information Centre
- Kallmann Syndrome information National Organisation for Rare Disorders
- Pituitary Foundation (UK) Kallmann Syndrome Site
- Rareconnect Group Kallmann syndrome site
Klinefelter Syndrome
- American Association for Klinefelter Syndrome Information and Support (USA)
- Klinefelter Support Group (USA)
- KS & A (USA) – Knowledge, Support and Action on Klinefelter Syndrome
- Hormones and Me Booklet Series – Klinefelter Syndrome
- UNIQUE: Understanding Rare Chromosome and Gene Disorders
- XXYY Project
Noonan Syndrome
- Noonan Syndrome Awareness Association (Australia)
- RASopathiesNet – USA/UK group supporting RASopathy syndromes including: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS) syndromes
- Noonan Syndrome Association (UK)
- Noonan Syndrome Foundation (USA)
- Noonan Syndrome Management Guidelines (2011) developed by RASopathiesNet group
Prader-Willi Syndrome
Turner Syndrome
- Turner Syndrome Association of Australia
- Turner Syndrome Society of USA
- Turner Syndrome Management Guidelines (APEG 2003)
- Hormones and Me Booklet Series – Turner Syndrome
- TSSG UK (Turners Syndrome Support Society)
- Turner Syndrome (explain hormones information website)
- Clinical Practice Guidelines for the care of girls and women with Turner Syndrome (2016) – Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
- Turner Syndrome Management Guidelines
Other Support Groups
- The Association of Genetic Support of Australia Inc
- Genetic Alliance Australia
- Genetic Support Network Victoria
- Support Network Victoria (GSNV) support group directory
- Genetic Alliance (USA) – alliance of genetic support groups
- Gene and Genetic Disorders
- New Zealand Society for Rare Disorders
- Supporting Aussie Kids with Kabuki Syndrome
- UNIQUE Rare Chromosome Disorders Support Group
- Aussie Hands Foundation – support for children & adults with hand differences
- BDF Newlife – Birth defects charity United Kingdom
Other resources and links
- Centre for Genetics Education (Sydney)
- Victorian Clinical Genetics Services
- Genetests (USA site – a publicly funded medical genetics information resource)
- On-line Mendelian Inheritance in Man (OMIM)
- Genetics Professional Societies Worldwide listing
- Hormones and Me Booklet Series – Congenital Adrenal Hyperplasia (CAH)
- Newborn Screening Labs Kids Health
- European Society of Human Genetics – ESHG
- ORPHANET Journal of Diseases
- PharmGKB: This site contains extensive information about the relationships among drugs, diseases and genes
- National Organisation for Rare Diseases (NORD) USA
- US National Library of Medicine – Genetics Home Reference
- Anorchidism support group (UK)
- Anorchia information (USA – Genetic and rare disease information centre)
- Patient Flyers – CLICK HERE to find the flyers listed below
- Klinefelter Syndrome
- Turner Syndrome
Centre for Genetic Education Resources:
Please see links to a series to educate paediatricians on genomic testing for childhood syndromes, there are the four videos and slides that have been uploaded to the Centre for Genetics Education (CGE) website.
The videos can be accessed here or at https://www.genetics.edu.au/health-professionals/health-professionals/genomics-1/intellectual-disability-genomic-testing on the CGE website.
Please note the videos are best viewed on Google or Google Chrome – they cannot be viewed on Internet explorer.
They are hoping to track usage and feedback on these materials and the CGE has uploaded a survey for paediatricians to complete.
Resources related to the video content can also be found on the CGE website here.