Acrodysostosis is a group of genetic conditions in which there is abnormal bone growth and development (skeletal dysplasia). Acrodysostosis is characterised by presence of shorter fingers and toes (severe brachydactyly), delayed growth,  short stature. and distinctive facial features caused by undeveloped facial bones.^1-4 Acrodysostosis can be caused by genetic changes in the PRKAR1A (acrodysostosis type 1) or PDE4D gene (acrodysostosis type 2). It can affect both males and females. Some individuals with acrodysostosis may also not be able to respond to certain hormones; this hormone resistance is typically associated with acrodysostosis Type 1.^1,3

Synonyms: Acrodysplasia; Arkless-Graham Syndrome; Maroteaux-Malamut Syndrome; Nasal Hypoplasia-Peripheral Dysostosis-intellectual Disability Syndrome; Peripheral Dysostosis-nasal Hypoplasia-Intellectual Disability (PNM) Syndrome

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:950 Acrodysostosis

ICD-11: LD2F.16 Otomandibular dysplasia

Common signs of acrodysostosis include short stature, abnormally small hands and feet with short fingers and toes and distinctive facial features such as a broad face, widely spaced eyes and flat nose, partly caused by undeveloped facial bones.^1,3 There may be other skeletal malformations affecting the spine.²

Individuals with acrodysostosis may have delayed growth, developmental delays and intellectual disability.^2,3 Some individuals may be resistant to specific hormones and display symptoms similar to those with deficiencies of those hormones.³ Obesity is also frequently observed.^2,3

Please speak to your medical team to learn more about the signs and symptoms of acrodysostosis.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Acrodysostosis is a genetic condition. It can be caused by disease-causing genetic changes (variants) in either the PRKAR1A or PDE4D gene, but there may also be other affected genes that have not been identified yet.²

In most cases, these genetic changes occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents.^1-3 In some families however, an autosomal dominant inheritance pattern of the PDE4D genetic variants has been reported. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of acrodysostosis may be based on presence of characteristic facial features, limited growth and skeletal abnormalities that are detected by X-ray imaging, and genetic testing to identify changes in the PRKAR1A or PDE4D genes.³

Doctors may perform additional examination or tests to rule out other conditions that have similar symptoms, such as brachydactyly type E, pseudohypoparathyroidism 1a, pseudopseudohypoparathyroidism (Albright hereditary osteodystrophy, AHO), 5q12.1 haploinsufficiency syndrome and 2q37 microdeletion syndrome.^2,3

Please speak to your medical team to learn more about the available diagnostic pathways for acrodysostosis.

There is currently no curative or standardised treatment for acrodysostosis.³ . Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include physicotherapy, special education, social support and surgery to correct specific abnormalities.² Individuals diagnosed with acrodysostosis should also be evaluated for hormone resistance and treated accordingly.³

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment or management of acrodysostosis may include general practitioners (GP), paediatricians, geneticists, physiotherapists, orthopaedics, paediatric endocrinologists, orthodontists, neurologists, ophthalmologists and physiotherapists.² The need for different healthcare professionals may change over a person’s lifetime and may extend beyond those listed here.

We are not aware of any clinical care guidelines for acrodysostosis in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

International Organisation:

Acrodysostosis Support and Research (United Kingdom)
Website: https://www.acrodysostosis.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Acrodysostosis varies between individuals, and each person’s experience is unique.

Personal story shared with Rare Voices Australia: Frankie’s Story

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on acrodysostosis can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Acrodysostosis
• National Organization for Rare Disorders (NORD): Acrodysostosis
• Acrodysostosis Support and Research: Resources – Patient & Professional Info

• Orphanet: Acrodysostosis
• Online Mendelian Inheritance in Man, OMIM®: #101800 – Acrodysostosis 1 with or without hormone resistance; ACRDYS1
• Online Mendelian Inheritance in Man, OMIM®: #614613 – Acrodysostosis 2 with or without hormone resistance; ACRDYS2
• Human Phenotype Ontology (HPO): Acrodysostosis
• Acrodysostosis support and research – Acrodysostosis: Background, diagnosis, and disease management

This page has been developed by Rare Voices Australia’s RARE Portal team in consultation with a lived experience expert.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.