Disability Awareness Hub: Understanding Megalocornea-Intellectual Disability Syndrome
September 10, 2025
Understanding Megalocornea-Intellectual Disability Syndrome
In the landscape of disability support, awareness of rare conditions can make a significant difference in how we understand and respond to individual needs. One such condition is Megalocornea-Intellectual Disability Syndrome (also known as Neuhauser Syndrome). A rare genetic disorder that combines unique physical features with developmental and cognitive challenges.
What Is It?
This syndrome is characterised by:
- Megalocornea: An unusually large cornea present from birth, which may affect vision but typically occurs without increased eye pressure.
- Intellectual disability: Varying in severity, often accompanied by developmental delays.
- Low muscle tone (hypotonia) and motor coordination difficulties
- Neurological symptoms: Including involuntary movements and, in some cases, seizures.
- Distinct facial features: Such as a broad nasal bridge, downward-slanting eyes, and large, low-set ears.
Though extremely rare, with fewer than 40 documented cases worldwide, this condition highlights the importance of early diagnosis and multidisciplinary support.
Why It Matters for Professionals
For disability professionals, recognising the signs of rare syndromes like this one can:
- Inform more tailored behaviour support plans
- Guide referrals to specialists such as neurologists, ophthalmologists, and geneticists
- Support individualised communication and sensory strategies
- Help teams understand the underlying causes of behaviours that may otherwise be misinterpreted
Understanding the full picture allows for more compassionate and effective support.
What Parents and Carers Should Know
If your child or someone you care for has been diagnosed with this syndrome, or presents with similar features, it’s important to:
- Seek a comprehensive developmental assessment
- Connect with a multidisciplinary care team
- Advocate for supports that address both physical and cognitive needs
- Explore genetic counselling to understand inheritance patterns and future planning
While the diagnosis may feel overwhelming, knowledge is empowering. With the right supports, individuals with this condition can thrive in environments that respect their unique needs.
Building Awareness and Inclusion
Rare conditions like Megalocornea-Intellectual Disability Syndrome remind us that every person’s journey is unique. By staying informed and curious, we can create more inclusive spaces - whether in therapy, education, or daily life.
If you're concerned about someone you know or you would like to learn more, reach out to learn how we can help.
News & Insights
Check Our Latest Resources
The NDIS Quality and Safeguards Commissio n has released a new suite of resources titled "Restrictive Practices and Me", designed to support meaningful conversations with participants when regulated restrictive practices are included in their behaviour support plans. These resources aim to uphold participants' rights and ensure that discussions around restrictive practices are accessible, respectful, and tailored to individual needs. Developed in collaboration with people with disability, NDIS providers, authorisation bodies, and advocacy organisations, the materials reflect a commitment to person-centred practice and transparency. What’s Included? The Restrictive Practices and Me toolkit features: A tip sheet for practitioners and providers Plain English and Easy Read discussion books A case study illustrating practical application A set of icons to visually represent different types of restrictive practices These resources are editable and adaptable, allowing practitioners to tailor content to each participant’s circumstances. For example, pages not relevant to a participant’s situation can be removed, and images can be reused in other formats. Why It Matters Under Section 20 of the NDIS (Restrictive Practices and Behaviour Support) Rules 2018, participants must be informed when restrictive practices are proposed. These conversations must be conducted in a way that is easy to understand and respectful of the participant’s autonomy. The Commission emphasises that restrictive practices should only be used as a last resort, and must be the least restrictive option available. They must be included in a behaviour support plan and follow the appropriate authorisation processes. Regulatory Priorities for 2025–26 This initiative aligns with the NDIS Commission’s broader regulatory priorities for 2025–26, which include: Reducing and eliminating regulated restrictive practices Strengthening oversight of unregistered providers Improving management of high-risk health concerns Ensuring providers support and train skilled workers Commissioner Louise Glanville reaffirmed the Commission’s commitment to human rights, stating that “practices that restrict the rights or freedom of movement of people with disability can be traumatic, dangerous and breach basic human rights." Accessing the Resources The Restrictive Practices and Me resources are available for download on the NDIS Commission website . Providers are encouraged to use, adapt, and share these tools to foster informed, respectful, and rights-based conversations with participants. Link : Talking to participants about Restrictive Practices Reference: NDIS Commision 2025-26 priorities focus: participant rights and safer services
By Tharon Neurodivergent Consultant at helpz
School holidays often mean family road trips—and while they can be full of adventure and bonding, they can also be a challenge, especially when travelling with children who have disability-related needs. Long car rides can quickly shift from exciting to exhausting without the right supports in place. Thankfully, with a little planning and a few sensory-friendly strategies, road trips can be both enjoyable and manageable for everyone. Why Movement and Sensory Breaks Matter Children with physical, sensory, or communication needs may experience discomfort, agitation, or sensory overload during long stretches in the car. This can lead to: Muscle tightness or fatigue Sensory seeking behaviours (e.g., rocking, vocalising, kicking) Difficulty with self-regulation Increased distraction for drivers Studies show that children can be 12 times more distracting to drivers than mobile phones, especially when they have complex needs That’s why movement and sensory breaks aren’t just helpful, they’re essential for safety and wellbeing. Road Trip-Friendly Sensory Break Ideas Here are some inclusive, easy-to-implement strategies: 1. Sensory Station on a Picnic Rug Pull over somewhere safe and set up a sensory mat or blanket. Include: Fidget toys Weighted lap pads Noise-cancelling headphones Calming chews or hand-held sensory items Even a short break to decompress can prevent overwhelm and reset the mood for the next leg of the trip. 2. Supported Stretch and Move For children with limited mobility or who use wheelchairs, gentle stretches or repositioning can relieve discomfort. Passive movement like shoulder rotations or leg stretches can reduce agitation and improve comfort. For children with more mobility, throwing a ball or frisbee, a quick game of ‘stop and go’, or some big stretches and bear crawls. 3. Nature Stops for Regulation Choose rest stops with green space. Walking barefoot on grass, listening to birds, or simply breathing fresh air can help regulate sensory systems and reduce cortisol levels. 4. Car-Friendly Sensory Kits Pack a small kit with: Textured items Scented playdough Visual timers Soft music playlists 4. Pack a “Comfort Kit” Include familiar items like: A favourite toy or blanket Snacks with preferred textures or flavours A small photo album of family or pets A calming scent (e.g., lavender sachet) These items can help regulate emotions and provide a sense of security. 5. Mindfulness on the Move Introduce simple mindfulness techniques like: Breathing with a pinwheel or bubbles “5-4-3-2-1” grounding (name 5 things you see, 4 you hear, etc.) Gentle hand squeezes or tapping for regulation These tools can help children self-regulate while on the move. Road trips don’t have to be stressful. With thoughtful planning and sensory-aware strategies, they can become memory-making adventures for the whole family. Whether you're a parent, carer, or practitioner supporting a family, these tips can help turn a potentially overwhelming experience into a positive one.
