International 9p Minus Awareness Day Date in the current year: September 9, 2025

Also known as monosomy 9p, 9p deletion syndrome, or Alfi’s syndrome, 9p minus is a chromosomal abnormality characterized by the deletion or absence of a portion of the short arm (p) of chromosome 9. This disorder occurs in approximately one out of every 50,000 births and is thus very rare. It can be inherited from a parent or occur spontaneously (de novo).

The area on the chromosome where genetic material is lost is called a “breakpoint”. Symptoms of 9p minus can vary greatly depending on the breakpoint and the amount of deleted genetic material, but most patients have craniofacial abnormalities (skull and facial defects) and psychomotor developmental delays of varying severity.

Craniofacial abnormalities that can occur in patients with 9p deletion syndrome include a triangular forehead (trigonocephaly) or a minor ridge on the forehead, a flat back of the head, a small jaw, a small mouth, a high-arched palate, a long philtrum (the distance between the nose and upper lip), low-set ears, a flat nasal bridge, epicanthal folds, and widely spaced eyes. Note that an individual with 9p minus syndrome will usually have some, but not necessarily all, of these abnormalities.

Individuals with 9p minus often have low muscle tone at birth, which can affect feeding, swallowing, and the development of gross motor skills. Most individuals have significant speech and language delays and some degree of intellectual disability.

Other possible symptoms and characteristics of 9p deletion syndrome include highly flexible joints, seizures, gastrointestinal problems, constipation, cardiac defects, susceptibility to infections, scoliosis, sleep disorders, genital abnormalities, skin and hair hypopigmentation, and eye problems such as nystagmus, glaucoma, and cataracts. Individuals with 9p deletion syndrome are usually affectionate but prone to temper tantrums due to their inability to verbally express themselves.

As with many genetic disorders, there is no cure for 9p deletion syndrome, and treatment focuses on managing symptoms and improving quality of life. Craniofacial malformations can be repaired surgically. Early intervention programs, which may include physical, occupational, and/or speech therapy, can address developmental delays. Special education may also be beneficial. Individuals with 9p minus can live beyond the age of 18, but they will require assistance with daily activities.

International 9p Minus Awareness Day, held on September 9, aims to educate the public about the disorder and its impact on patients and their families. The day also encourages health professionals, researchers, industry representatives, public authorities, policymakers, and other stakeholders to promote further research into 9p minus.

You can participate in International 9p Minus Awareness Day by learning about the disorder and sharing your knowledge with others, donating to the Chromosome 9p Minus Network, and spreading awareness on social media. You can also contact your local authorities and request that an important building, monument, or landmark be lit up in blue and green to raise public awareness of 9p minus.