Who we are
The Associazione Nazionale Macrodattilia – ONLUS was founded by a group of parents of children with macrodactyly in January 2017.
We operate as a non-profit organization made up of patients and patients’ parents.
According to the principles stated in our Statute (Articles of Association) our mission is:
- To provide support to patients and their families
- To increase awareness of macrodactyly, both in the general public and among physicians
- To stimulate and support research on macrodactyly
- To strive for the creation and publication of evidence-based diagnosis and treatment guidelines on the condition and for the establishment of reference centers throughout the national territory
What is Macrodactyly?
Macrodactyly is a congenital rare malformation characterized by the diffuse enlargement (overgrowth) of 1 or more digits (toes or fingers). It can also affect the entire hand/foot or limb.
Macrodactyly can be a phenotypic manifestation of more than one disease/syndrome.
For instance, Type 1 macrodactyly, in which bone, fat tissue, tendons and nerves are enlarged, is caused by somatic gain-of-function mutations in the PIK3CA gene and belongs to the PROS sprectrum of diseases. The PIK3CA gene codes for a protein, PI3K, which is critical for growth, survival and metabolism of most cells, and is one of the most commonly mutated genes found in cancers. As thus it is a promising target for further investigation into the etiology of overgrowth conditions like macrodactyly.
Other underlying conditions include:
- Proteus syndrome
- Proteus-like syndrome
- Klippel Trenaunay Syndrome (also belonging to the PROS spectrum)
- CLOVES syndrome (also belonging to the PROS spectrum)
- Mosaic Overgrowth with Fibroadipose Hyperplasia (also belonging to the PROS spectrum)
- Maffucci’s and Ollier’s syndroms
- Tuberous sclerosis
- Neurofibromatosis type 1
- Pacinian neuroma
The only treatment option so far seems to be surgery, which usually involves multiple procedures, often with disappointing results.
However, clinical studies are underway to test safety and efficacy of certain molecules targeting the PI3K-Akt-mTOR pathway that could potentially be used in patients with syndroms and isolated disease that are linked to this pathway.
Our most significant Projects
In December 2017 we organized the First Day on Macrodactyly, with specialists of the disease, in order to promote a better understanding of macrodactyly and sharing of knowledge gathered so far.
Videos and presentations are available here. (Some of them have subtitles in English)
If you wish to make contact with our Association, please write to: