These conditions are congenital or genetic and are known to cause significant learning, communication, mobility or developmental challenges.
Children with these diagnoses automatically qualify for NDIS early intervention supports.
Conditions Primarily Resulting in Intellectual / Learning Impairment
- Global Developmental Delay: Significant delays across multiple developmental areas in children under 7.
- Aicardi Syndrome: A rare neurological condition causing seizures, vision issues and developmental delays.
- Aicardi-Goutières Syndrome: Causes neurological inflammation, developmental regression and severe delays.
- Angelman Syndrome: Severe developmental delay with minimal speech, movement challenges and unique behavioural features.
- CHARGE Syndrome: A multisystem disorder affecting vision, hearing, growth and development.
- Cockayne / COFS / Related Syndromes: Progressive conditions causing growth failure, neurological decline and sensory impairments.
- Coffin-Lowry Syndrome: Causes intellectual disability, distinctive facial features and developmental challenges.
- Cohen Syndrome: Leads to developmental delay, vision problems and low muscle tone.
- Cornelia de Lange Syndrome: Causes intellectual disability, limb differences and behavioural challenges.
- Cri du Chat Syndrome: A genetic disorder causing developmental delay, intellectual disability and distinctive cry.
- Dandy-Walker Syndrome: A brain malformation affecting coordination and development.
- DiGeorge / 22q11.2 / VCFS / Shprintzen: A genetic disorder affecting heart, immunity, learning and behaviour.
- Down Syndrome (Trisomy 21): Causes intellectual disability, developmental delay and physical differences.
- Edwards Syndrome (Trisomy 18): A severe chromosomal disorder causing profound developmental and health issues.
- Fragile X Syndrome: A genetic cause of intellectual disability, behavioural challenges and sensory sensitivity.
- Kabuki Syndrome: Causes developmental delay, learning difficulties and skeletal differences.
- Lesch-Nyhan Syndrome: Causes neurological impairment, movement issues and behavioural challenges.
- Leigh Syndrome: A severe mitochondrial disorder causing developmental regression and neurological decline.
- Menkes Disease: A metabolic disorder affecting neurological development and growth.
- Patau Syndrome (Trisomy 13): A severe congenital condition affecting brain and organ development.
- Prader-Willi Syndrome: Causes low muscle tone, learning difficulties and appetite regulation problems.
- Rett Syndrome: A neurological disorder causing loss of speech, mobility issues and developmental regression.
- Seckel Syndrome: A growth disorder causing microcephaly and developmental delay.
- Smith-Lemli-Opitz Syndrome: A metabolic condition causing developmental delay and physical abnormalities.
- Smith-Magenis Syndrome: Causes sleep disturbances, behavioural challenges and developmental delay.
- Sturge-Weber Syndrome: A neurological disorder causing seizures, developmental delay and vision issues.
- Trisomy 9: A chromosomal disorder causing severe developmental and physical challenges.
- Tuberous Sclerosis: Causes benign tumours, seizures and developmental delay.
- Williams Syndrome: Features strong social skills, learning difficulties and cardiovascular issues.
- Wolf-Hirschhorn Syndrome: A genetic condition causing developmental delay, seizures and growth issues.
Conditions Primarily Resulting in Neurological Impairment
Systemic Atrophies Affecting the Central Nervous System
- Friedreich’s Ataxia: Causes severe coordination loss and progressive mobility decline.
- Hereditary Spastic Paraplegia: Leads to progressive leg stiffness and weakness.
- Louis-Bar Syndrome (Ataxia-Telangiectasia): Causes balance issues, immune problems and neurological decline.
- Niemann-Pick A & C: Causes neurological decline, developmental regression and organ involvement.
- Progressive Bulbar Palsy of Childhood: Causes difficulties with swallowing, speech and movement.
Spinal Muscular Atrophy – All List D Types
- SMA Type I (Werdnig-Hoffmann): Severe infantile weakness and respiratory challenges.
- SMA Type II (Dubowitz): Causes significant mobility impairment and muscle weakness.
- SMA Type III (Kugelberg-Welander): Causes progressive mobility issues in childhood.
- SMA-LED: Causes predominant weakness in the lower limbs.
- X-linked SMA: A hereditary form causing early-onset muscle weakness.
Extrapyramidal & Movement Disorders
- Hallervorden-Spatz / PKAN: Causes movement difficulty and cognitive decline.
- Alpers Disease: Causes seizures, liver issues and neurological degeneration.
- Adrenoleukodystrophy (Childhood Cerebral Form): Causes rapid neurological decline and developmental loss.
- Alexander Disease: Causes developmental regression and severe neurological symptoms.
- Canavan Disease: A progressive disorder causing severe developmental and motor delays.
- Krabbe Disease: Causes rapid neurological deterioration in infancy.
- Pelizaeus-Merzbacher Disease: A neurological disorder causing coordination and developmental challenges.
Episodic & Paroxysmal Disorders
- Lennox-Gastaut Syndrome: A severe epilepsy syndrome causing multiple seizures and developmental delay.
- West Syndrome: Causes infantile spasms and significant developmental regression.
Polyneuropathies & Peripheral Nervous System Disorders
- Dejerine-Sottas Disease: A severe neuropathy causing muscle weakness and developmental delays.
- Infantile Refsum Disease: A metabolic condition causing hearing loss, vision issues and developmental impairment.
Conditions Resulting in Physical Impairment
- Amputation: Loss of limb(s) causing permanent mobility and functional challenges.
- Diamond-Blackfan Anaemia: Causes fatigue, growth issues and physical limitations.
- Epidermolysis Bullosa: Causes fragile skin, blistering and significant care needs.
- Harlequin Ichthyosis: Causes severe skin thickening and mobility limitations.
- Hay Wells Syndrome: Causes skin, hair and limb abnormalities with functional impact.
- Joint or Limb Deformities: Structural differences causing impaired mobility.
- Juvenile Arthritis / Stills Disease: Causes joint pain and mobility difficulties in children.
- Osteogenesis Imperfecta: Causes fragile bones and frequent fractures.
- Sjogren-Larsson Syndrome: Causes skin changes, developmental delay and motor difficulties.
Myoneural Junction & Muscle Disorders
- Congenital Muscular Dystrophy: Causes early muscle weakness and mobility challenges.
- Congenital Myotonia: Causes delayed muscle relaxation and stiffness.
- Distal Muscular Dystrophy: Causes weakness in hands, feet and lower limbs.
- Duchenne Muscular Dystrophy: A severe progressive muscle-wasting disorder.
- Emery-Dreifuss Muscular Dystrophy: Causes joint stiffness, weakness and heart issues.
- Facioscapulohumeral Muscular Dystrophy: Affects face, shoulder and upper arm muscles.
- Myotubular Myopathy: Causes severe muscle weakness from infancy.
- Oculopharyngeal Muscular Dystrophy: Affects eyelid control, swallowing and mobility.
- Paramyotonia Congenita: Causes muscle stiffness worsened by cold or activity.
Cerebral Palsy & Paralytic Syndromes
- Cerebral Palsy: Affects movement, coordination and posture.
- Diplegia: Affects both legs more than the arms.
- Hemiplegia: Affects one side of the body.
- Monoplegia: Affects one limb.
- Paraplegia: Paralysis of the lower body.
- Quadriplegia: Paralysis of all four limbs.
- Tetraplegia: Similar to quadriplegia, affecting arms and legs.
Conditions Resulting in Sensory and/or Speech Impairment
- Permanent Blindness (as per NDIS criteria): Severe vision impairment affecting independence.
- Deafblindness: Combined hearing and vision loss causing significant communication and mobility challenges.
Conditions Resulting in Multiple Impairments
- Aceruloplasminemia: Causes movement problems and cognitive impairment.
- Adrenoleukodystrophy: Causes neurological decline and physical disability.
- Albinism: Causes vision impairment and light sensitivity.
- Arginosuccinic Aciduria: Causes developmental delay and neurological issues.
- Aspartylglucosaminuria: Causes intellectual disability and physical decline.
- Cerebrotendinous Xanthomatosis: Causes movement issues and cognitive changes.
- Congenital CMV Infection: Causes hearing loss, developmental delay and motor impairment.
- Congenital Hypothyroidism: Can cause developmental delay without early treatment.
- Congenital Iodine-Deficiency Syndrome: Causes intellectual and growth impairment.
- Congenital Rubella Syndrome: Causes hearing loss, vision issues and heart defects.
- Galactosaemia: Can cause long-term learning and neurological difficulties.
- Glycine Encephalopathy: Causes seizures and severe developmental delays.
- GM1 Gangliosidosis: Causes progressive neurological decline and developmental loss.
- Hartnup Disease: Causes skin issues, coordination problems and developmental challenges.
- Homocystinuria: Causes vision problems, developmental delays and clotting risks.
- Lowe Syndrome: Causes kidney issues, cataracts and developmental delays.
- Mannosidosis: Causes hearing loss, developmental delay and motor impairment.
- Menkes Disease: Causes severe neurological impairment due to copper metabolism issues.
- Mucolipidosis II: Causes severe developmental and skeletal abnormalities.
- Mucolipidosis III: Causes joint stiffness and developmental challenges.
- Mucolipidosis IV: Causes vision loss and developmental delay.
- Neuronal Ceroid Lipofuscinosis: Causes seizures, vision loss and progressive decline.
- Niemann-Pick Disease: Causes organ and neurological impairment.
- Phenylketonuria (PKU): Causes intellectual disability without early dietary intervention.
- Pyruvate Carboxylase Deficiency: Causes metabolic failure and severe developmental issues.
- Pyruvate Dehydrogenase Deficiency: Causes neurological impairment and mobility challenges.
- Sialidosis: Causes vision problems, seizures and coordination difficulties.
- Sulfite Oxidase Deficiency: Causes severe neurological impairment and developmental delays.
Mucopolysaccharidoses (MPS Conditions)
- Hurler Syndrome (MPS I-H): Causes developmental regression and organ involvement.
- Scheie Syndrome (MPS I-S): Causes joint stiffness and vision issues.
- Hurler-Scheie (MPS I H-S): Causes mixed physical and developmental challenges.
- Hunter Syndrome (MPS II): Causes progressive behavioural and developmental decline.
- Sanfilippo Syndrome (MPS III): Causes severe behavioural and cognitive regression.
- Morquio Syndrome (MPS IVA): Causes skeletal abnormalities and mobility issues.
- Maroteaux-Lamy (MPS VI): Causes joint stiffness and mobility limitations.
- Sly Syndrome (MPS VII): Causes developmental delay and organ enlargement.
Lysosomal Storage Disorders
- Gaucher Disease (Types 2 & 3): Causes neurological decline and organ enlargement.
- Niemann-Pick A & C: Causes severe neurological impairment and developmental loss.
- Pompe Disease: Causes muscle weakness, breathing issues and mobility limitations.
- Sandhoff Disease: Causes severe neurological decline in infancy.
- Schindler Disease: Causes developmental delay and neurological regression.
- Tay-Sachs Disease: Causes early neurological decline and loss of motor skills.
Congenital Conditions Causing Permanent Impairment
- Chiari Malformation: A brain structure disorder affecting balance and coordination.
- Congenital Limb Absence: Missing limb(s) from birth affecting mobility and daily activities.
- Congenital Hydrocephalus: Excess brain fluid causing developmental delays.
- Fetal Alcohol Spectrum Disorder: Causes behavioural, learning and developmental challenges.
- Fetal Hydantoin Syndrome: Causes growth, facial and developmental differences.
- Microcephaly: Small head size with significant developmental and neurological impact.
- Spina Bifida: A spinal condition causing mobility and continence issues.
- VATER / VACTERL Association: Multiple congenital anomalies affecting limbs, organs and development.
