Symptoms and Early Signs of OMS

While every child with Oliver-McFarlane Syndrome (OMS) has a unique journey, the condition typically reveals itself through a specific pattern of physical signs and developmental changes. Because OMS is part of a spectrum of disorders caused by the PNPLA6 gene, symptoms can vary significantly from one child to another ^[1][2]. Understanding these early signs can help you work more effectively with your child’s medical team.

The Signature Sign: Trichomegaly

The most striking early feature of OMS is trichomegaly, which is the medical term for eyelashes that are unusually long (often over 12mm), thick, and dark ^[3]. While these long lashes are a defining hallmark of OMS, they are not unique to this syndrome. Doctors must rule out other potential causes, including:

• Medications: Certain drugs, such as prostaglandin analogues (often used for glaucoma), some cancer treatments (EGFR inhibitors), and certain immune-suppressing medications ^[3][4].
• Other Syndromes: Long lashes can also be seen in other rare genetic conditions, such as Cornelia de Lange, Coffin–Siris, or Kabuki syndrome ^[3][5].
• Acquired Conditions: In some cases, long lashes can be linked to other health issues like HIV, severe allergic skin conditions (atopic dermatitis), or certain connective tissue diseases ^[3][6].

In OMS, trichomegaly is typically present from birth or very early childhood and is often accompanied by sparse hair on the scalp and eyebrows ^[7].

Vision Changes: Chorioretinal Degeneration

One of the most significant symptoms of OMS is chorioretinal degeneration, a progressive condition that affects the back of the eye. This often begins with nyctalopia, commonly known as night blindness ^[8].

You might notice your child:

• Becoming fearful or hesitant in low-light settings.
• Bumping into objects at dusk or in dimly lit rooms.
• Having a narrowed field of vision (peripheral vision loss) ^[7][9].

The eye disease in OMS can be quite severe, with some small reports of PNPLA6-related disease noting visual acuities of 20/200 or lower. However, these are reported ranges, not expected outcomes, and the child’s own examinations and functional-vision assessment are more informative ^[10]. Because these changes happen inside the eye, they may not be visible to the naked eye. An eye specialist will use tools like Optical Coherence Tomography (OCT) or an Electroretinogram (ERG) to measure how the retina is functioning and track changes over time ^[10][11].

Growth and Hormone Development

Poor growth is another core feature of OMS. While some babies are born at a typical size, their growth velocity—the speed at which they grow—often slows down significantly in early childhood ^[7][12].

This slow growth is usually linked to pituitary hormone deficiencies. The pituitary gland may fail to produce enough growth hormone, which is essential for height, or other hormones that trigger puberty later in life ^[13][14]. In some cases, children may also have hypogonadotropic hypogonadism, which means the body does not produce the hormones needed for sexual development ^[11].

Neurological and Developmental Variability

The way OMS affects brain development and movement is highly variable.

• Cognitive Development: Some children with OMS have typical intelligence and no cognitive impairment ^[7]. Others may experience intellectual disabilities ranging from mild to significant ^[13].
• Motor Skills: Some children may experience delays in reaching milestones like sitting up, crawling, or walking ^[15].
• Coordination: Ataxia, which is a lack of muscle coordination affecting balance, is not a defining feature of every child with OMS. It is more characteristic of other PNPLA6 phenotypes like Boucher-Neuhäuser, and its presence warrants an individualized neurological assessment ^[11][16].

Other Potential Signs

While not universal, some infants with OMS may experience respiratory distress shortly after birth ^[7]. This is a rare or uncertain reported association based on isolated reports. Pulmonary assessment is guided by symptoms or a relevant NICU history, and routine lung surveillance is not required for every child with OMS ^[7].