Acrodysostosis

What is Acrodysostosis?

It is a group of genetic conditions that affect bone growth. The main symptoms include very short fingers and toes, underdeveloped facial bones, as well as a small nose, and short stature.

There are two types of the condition and they each have different gene change causes. The other difference is that Type 1 also presents with hormone resistance, which prevents the body from responding to certain hormones. Type 2 does not present with this same hormone resistance.

What gene changes cause Acrodysostosis?

Type 1 of the condition is caused by gene changes in the PRKAR1A gene.
Type 2 is caused by changes in the PDE4D gene.

What are the main symptoms of Acrodysostosis?

The main symptoms of the syndrome vary widely between individuals in terms of their presentation, and degree of severity.

Intellectual disability, ranging from mild to moderate, and developmental delays are main symptoms of the syndrome. Speech delay, and motor delay are also common.

Skeletal abnormalities are common with the syndrome. These can include short and malformed bones found in both the hands and feet. These short bones in turn case abnormally small hands and feet, as well as very short fingers and toes. They can also result in a short stature amongst affected individuals.

Scoliosis, an abnormal curving of the spine, is also common with the syndrome. Symptoms can also include spinal stenosis, which is a narrowing of the spaces found in the spinal canal. This consequently causes numbness and or pain in their lower back and or legs, which worsens with time.
Unique facial features of the syndrome include an underdeveloped upper jaw, and a small nose caused by an underdeveloped nasal bone, as well as a depressed nasal bridge. A prominent lower jaw is also common, as are widely spaced eyes, and epicanthal folds (an extra fold of skin covering the inner corners of the eyes), low-set ears and abnormalities affecting the teeth.
Symptoms also include restricted growth before birth and growth delay often continues after birth too.

How is Acrodysostosis diagnosed?

To find out if someone has a diagnosis of Acrodysostosis, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more