Receiving a diagnosis that affects your child's appearance can feel overwhelming. Whether your child has a port-wine stain, haemangioma, cleft lip and palate, vitiligo, hearing loss or another visible difference, these diagnosis guides have been developed to provide Australian families with practical, evidence-informed information and support. Each guide explores the condition, common treatments, school considerations, emotional wellbeing, and practical strategies to help families navigate each stage of their child's journey with greater confidence.
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A port-wine stain is a type of vascular birthmark caused by enlarged blood vessels in the skin. It is present at birth and most commonly appears on the face or neck. Without treatment, it may darken or thicken over time.
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Sturge-Weber Syndrome rare neurological condition that can occur in some children with a facial port-wine stain, particularly when it involves the forehead or upper eyelid. It may affect the brain and eyes and can cause seizures, glaucoma, and developmental challenges.
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Often called a "strawberry birthmark," an infantile haemangioma is a non-cancerous growth of blood vessels. It usually appears within the first few weeks of life, grows rapidly during infancy, and often shrinks naturally over time.
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A venous malformation is a collection of abnormal veins that are present from birth. They grow as a child grows and may cause swelling, discomfort, or changes in appearance.
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A lymphatic malformation is a collection of abnormal lymphatic vessels that can form cysts or swelling, commonly around the head, neck, or mouth. Treatment depends on its size and location.
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An arteriovenous malformation is an abnormal connection between arteries and veins. It can enlarge over time and may require specialised treatment to prevent complications.
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A cleft lip or palate occurs when the lip or roof of the mouth does not fully form during pregnancy. Children often receive care from a multidisciplinary team and may require surgery, speech therapy, and dental support.
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Hearing loss can range from mild to profound and may be present from birth or develop later. Early diagnosis and support help children develop speech, language, and confidence.
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Treacher Collins Syndrome is a rare genetic condition that affects the development of the bones and tissues of the face. It may also affect hearing, breathing, and feeding.
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Scars can form after surgery, injury, burns, illness, or medical treatment. They may be raised, flat, pale, dark, or textured, and can affect how a child feels about their appearance.
Some children have visible scars from life-saving or corrective surgery. These scars can be an important part of their story and may need both physical and emotional support as children grow.
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Craniofacial differences are conditions that affect the growth and appearance of the head, face, or jaw. Some are present at birth, while others develop later, and treatment often involves a team of specialists.
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Goldenhar Syndrome is a congenital condition that affects the development of the face, ears, eyes, and spine. The severity varies greatly between children.
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Cerebral palsy (CP) is the most common physical disability in childhood. It is a group of conditions that affects movement, muscle tone, posture and coordination.
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Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare vascular condition that is present at birth. It causes a persistent marbled or lace-like pattern on the skin, usually appearing purple, red, or bluish in colour. Unlike the temporary mottling many babies develop when they're cold, CMTC does not disappear completely when the skin warms up. While the appearance can be concerning, many children with CMTC are otherwise healthy, and the skin often fades significantly as they grow. Some children may require monitoring for associated conditions, such as differences in limb growth or, less commonly, eye problems, making early assessment and ongoing follow-up important.