List B includes conditions that are likely to result in a permanent impairment, meaning the NDIS recognises these diagnoses often cause long-term challenges with daily functioning.
However, List B conditions do not automatically qualify for NDIS access.
To be eligible, the NDIA must see clear evidence that the impairment is permanent and substantially affects everyday life, such as communication, learning, self-care, or social participation.
Conditions Primarily Resulting in Intellectual or Learning Impairment
These conditions mainly affect how a person learns, processes information, communicates, and adapts to everyday life.
Support needs can range from mild to significant and may impact education, employment, social interaction, and independence.
While some people require minimal assistance, others may need ongoing support to manage daily activities and participate fully in the community.
Intellectual Disability
Intellectual disability may be funded by the NDIS when it causes permanent and significant functional impairment.
It affects learning, reasoning, problem-solving and adaptive skills, with support needs ranging from mild to high.
Families often ask, “is intellectual disability funded by NDIS?” While a diagnosis alone is not enough under List B, the NDIS may fund supports when daily functioning is clearly impacted.
How NDIS may support intellectual disability
- Therapies: OT, speech therapy, psychology and skill-building supports
- Daily Living: Assistance with routines, self-care and independence
- Community Access: Support to participate in education, work and social activities
Eligibility & Evidence Needed
- Condition must be permanent
- Functional impact on learning and daily living must be shown
- Cognitive and adaptive functioning assessments required
Pervasive Developmental Disorders (not meeting List A or C)
Pervasive Developmental Disorders may be funded by the NDIS when they cause lasting difficulties with communication, behaviour and social interaction.
Families often ask, “is PDD funded by NDIS?” These conditions do not meet the severity threshold for List A, so eligibility depends on how significantly daily functioning is affected.
How NDIS may support PDD
- Therapies: Speech therapy, OT and behavioural support
- Daily Living: Help with routines, emotional regulation and social skills
- Community Access: Support to engage in school, work or community settings
Eligibility & Evidence Needed
- Evidence of permanent developmental impairment
- Reports showing impact on communication, behaviour or independence
- Functional assessments required
Asperger Syndrome
Asperger Syndrome may be funded by the NDIS when it results in substantial functional impairment.
It involves social communication differences, sensory sensitivities and rigid thinking patterns, without intellectual disability.
Families often ask, “is Asperger Syndrome funded by NDIS?” Access depends on the level of daily support required.
How NDIS may support Asperger Syndrome
- Therapies: Psychology, OT and social skills support
- Daily Living: Assistance with routines, organisation and emotional regulation
- Community Access: Support for education, employment and social participation.
Eligibility & Evidence Needed
- Condition must be ongoing and permanent
- Functional impact must be significant, not just diagnostic
- Reports demonstrating daily support needs required.
Atypical Autism
Atypical autism may be funded by the NDIS when autistic traits significantly affect communication, behaviour and social functioning.
Families often ask, “is atypical autism funded by NDIS?” Because it does not meet full diagnostic criteria, eligibility relies heavily on functional evidence rather than the label alone.
How NDIS may support atypical autism
- Therapies: Speech therapy, OT and behavioural support
- Daily Living: Help with routines, sensory regulation and independence
- Community Access: Support for participation and social engagement
Eligibility & Evidence Needed
- Permanent developmental condition
- Clear evidence of functional impairment
- Multidisciplinary reports required
Childhood Autism
Childhood autism may be funded by the NDIS when it causes long-term challenges with communication, social interaction, sensory processing and adaptability.
Families often ask, “is childhood autism funded by NDIS?” Under List B, access depends on whether the condition substantially affects daily life.
How NDIS may support childhood autism
- Therapies: Speech therapy, OT, psychology and behavioural supports
- Daily Living: Assistance with routines, self-care and transitions
- Community Access: Support for learning, play and social participation
Eligibility & Evidence Needed
- Autism diagnosis from a qualified professional
- Evidence of permanent functional impact
- Reports showing support needs across daily settings.
Chromosomal Abnormalities Causing Permanent Impairment (Not in List A)
Aicardi-Goutières Syndrome
National Disability Insurance Scheme (NDIS) may fund support for people living with Aicardi-Goutières Syndrome when the condition is permanent and significantly affects daily functioning.
This rare genetic condition impacts neurological development and may cause seizures, feeding difficulties, mobility limitations and learning challenges.
Families often ask, “is Aicardi-Goutières Syndrome funded by NDIS?” While the NDIS does not fund diagnoses, it may fund reasonable and necessary supports when functional impairment is clearly demonstrated.
How NDIS supports Aicardi-Goutieres Syndrome
- Therapies: OT, physiotherapy, speech and developmental supports
- Daily Living: Assistance with personal care, feeding and routines
- Assistive Technology: Mobility aids, positioning equipment and communication supports
- Community Access & Respite: Support for appointments and family relief
Eligibility & Application
- Permanent neurological impairment
- Significant impact on mobility, learning and daily activities
- Specialist and therapy reports required
CHARGE Syndrome
NDIS may fund support for people living with CHARGE Syndrome when the condition causes permanent and substantial functional impairment.
CHARGE Syndrome can affect vision, hearing, heart development, growth, feeding and mobility.
Families often ask, “is CHARGE Syndrome funded by NDIS?” While diagnoses are not funded, supports may be funded when daily functioning and independence are significantly affected.
How NDIS supports CHARGE Syndrome
- Therapies: OT, speech therapy, physio and feeding support
- Daily Living: Assistance with routines, feeding and mobility
- Assistive Technology: Sensory supports and mobility equipment
- Community Access & Respite: Ongoing family support
Eligibility & Application
- Permanent multisystem condition
- Functional impacts across daily life
- Medical and therapy evidence required
A complex condition affecting vision, hearing, heart development, growth and mobility.
Children often experience feeding difficulties and developmental delays, requiring ongoing multidisciplinary support.
Cockayne Syndrome / COFS Syndrome
It includes a group of progressive genetic conditions including Cockayne types I and II, COFS syndrome, Pena-Shokeir type II, Weber-Cockayne, and Neill-Dingwall syndrome causing growth failure, premature ageing, neurological decline, and vision/hearing loss.
NDIS may fund support for people living with Cockayne Syndrome or COFS Syndrome when the condition results in permanent functional impairment.
Families often ask, “is Cockayne Syndrome funded by NDIS?” Supports may be funded when daily functioning is substantially impacted.
These disorders severely affect development, mobility and daily functioning, requiring lifelong, high-level support.
How NDIS supports Cockayne / COFS Syndromes
- Therapies: OT, physio, sensory and developmental supports
- Daily Living: High-level assistance with all personal care
- Assistive Technology: Mobility and positioning equipment
- Respite: For families managing intensive care
Eligibility & Application
- Permanent and progressive condition
- Severe impact on daily functioning
- Specialist documentation required
Cohen Syndrome
NDIS may fund support for people living with Cohen Syndrome when the condition causes permanent functional limitations.
Cohen Syndrome can affect muscle tone, vision, feeding, learning and behaviour. Individuals may have learning and behavioural differences and often need support with daily tasks.
Families often ask, “is Cohen Syndrome funded by NDIS?” While diagnoses are not funded, supports may be provided when daily living and independence are impacted.
How NDIS supports Cohen Syndrome
- Therapies: OT, speech therapy and physio
- Daily Living: Support with routines, feeding and self-care
- Assistive Technology: Vision and mobility supports
- Community Access: Participation support
Eligibility & Application
- Permanent genetic condition
- Functional impact on daily activities
- Therapy and specialist reports required
Dandy-Walker Syndrome
NDIS may fund support for people living with Dandy-Walker Syndrome when the condition results in permanent impairment.
This brain malformation can affect balance, coordination, motor development and learning.
Families often ask, “is Dandy-Walker Syndrome funded by NDIS?” Supports may be funded when daily functioning is significantly affected.
How NDIS supports Dandy-Walker Syndrome
- Therapies: OT, physiotherapy and developmental support
- Daily Living: Assistance with mobility and routines
- Assistive Technology: Mobility aids and safety supports
Eligibility & Application
- Permanent neurological condition
- Functional impact on movement or learning
- Medical and therapy evidence required
DiGeorge Syndrome / 22q11.2 Deletion Syndrome
DiGeorge Syndrome is a genetic condition affecting heart development, immune function, learning and behaviour.
It is also known as Velocardiofacial syndrome, Shprintzen syndrome and Conotruncal anomaly face syndrome.
NDIS may fund support for people living with DiGeorge Syndrome (22q11.2 Deletion Syndrome) when functional impairment is permanent and significant.
Families often ask, “is DiGeorge Syndrome funded by NDIS?” Supports may be funded when daily living is affected.
How NDIS supports DiGeorge Syndrome
- Therapies: OT, speech therapy, psychology
- Daily Living: Support with routines and independence
- Community Access: Participation and social support
Eligibility & Application
- Permanent genetic condition
- Functional impact on learning or behaviour
- Specialist and therapy reports required
Down Syndrome (Trisomy 21)
NDIS may fund support for people living with Down Syndrome when functional impairment is permanent and affects daily life.
It is a chromosomal condition causing intellectual disability, developmental delay, low muscle tone and distinctive physical features.
Down Syndrome impacts learning, communication, muscle tone and independence.
Families often ask, “is Down Syndrome funded by NDIS?” While diagnoses are not funded, supports may be provided based on functional impact.
How NDIS supports Down Syndrome
- Therapies: OT, speech therapy, physiotherapy
- Daily Living: Support with routines and self-care
- Skill Development: Learning and communication supports
Eligibility & Application
People often benefit from lifelong support for learning, communication and daily skills.
- Permanent intellectual disability
- Significant impact on daily functioning
- Evidence from health professionals required
Fragile X Syndrome
NDIS may fund support for people living with Fragile X Syndrome when the condition causes permanent functional impairment that affects daily life.
Fragile X Syndrome is a genetic condition that can impact learning, behaviour, sensory processing, communication, and emotional regulation.
Families often ask, “is Fragile X Syndrome funded by NDIS?” While the diagnosis itself is not funded, NDIS supports may be provided based on how the condition affects daily functioning and independence.
How NDIS Supports Fragile X Syndrome
- Therapies: Occupational Therapy (OT), Speech Therapy, Psychology to support communication, learning, behaviour, and emotional regulation.
- Daily Living: Support with routines, self-care, transitions, and managing daily activities safely.
- Skill Development: Assistance with communication skills, social interaction, emotional regulation, and independence-building skills.
Eligibility & Application
- Permanent genetic condition
- Functional impact on learning, behaviour, and daily activities
- Evidence from psychologists and allied health professionals is required
Kabuki Syndrome
NDIS may fund support for people living with Kabuki Syndrome when functional impairment is permanent and affects daily life.
Kabuki Syndrome is a genetic condition that can cause developmental delays, feeding difficulties, skeletal differences, and learning challenges.
It may impact mobility, communication, independence, and daily routines. Families often ask, “is Kabuki Syndrome funded by NDIS?” While diagnoses are not funded, supports may be provided based on the condition’s functional impact.
How NDIS Supports Kabuki Syndrome
- Therapies: Occupational Therapy (OT), Speech Therapy, and Physiotherapy to support mobility, communication, feeding, and daily living skills.
- Daily Living: Assistance with feeding, routines, personal care, mobility, and building independence.
- Skill Development: Support to develop communication, learning abilities, and everyday functional skills.
Eligibility & Application
- Permanent genetic condition
- Significant impact on mobility, communication, learning, or self-care
- Evidence from medical and allied health professionals required
Menkes Disease
NDIS may fund support for people living with Menkes Disease when the condition causes permanent and significant functional impairment.
Menkes Disease is a rare metabolic disorder affecting copper absorption, leading to severe neurological decline, seizures, and developmental delay.
It often results in high and ongoing daily care needs. Families often ask, “is Menkes Disease funded by NDIS?” Supports may be provided based on the level of functional impact and care required.
How NDIS Supports Menkes Disease
- Therapies: Occupational Therapy (OT), Physiotherapy, and developmental support to assist comfort, movement, and daily functioning.
- Daily Living: High-level assistance with feeding, positioning, personal care, safety, and routines.
- Assistive Support: Equipment and supports to assist with mobility, positioning, and safe daily care.
Eligibility & Application
- Permanent metabolic condition
- Severe impact on neurological development and daily functioning
- Specialist diagnosis and therapy reports required
Prader-Willi Syndrome
NDIS may fund support for people living with Prader-Willi Syndrome when the condition causes permanent functional impairment.
Prader-Willi Syndrome can affect muscle tone, learning, behaviour, and appetite regulation, impacting independence and daily routines.
Families often ask, “is Prader-Willi Syndrome funded by NDIS?” Supports may be provided based on how the condition affects daily functioning and safety.
How NDIS Supports Prader-Willi Syndrome
- Therapies: Occupational Therapy (OT), Speech Therapy, and Psychology to support learning, communication, and behaviour.
- Daily Living: Structured support with routines, personal care, meal planning, and daily activities.
- Skill Development: Assistance with emotional regulation, independence, and daily living skills.
Eligibility & Application
- Permanent genetic condition
- Significant impact on behaviour, learning, routines, and independence
- Evidence from health and allied health professionals required
Seckel Syndrome / Primordial Dwarfism
NDIS may fund support for people living with Seckel Syndrome or Primordial Dwarfism when functional impairment is permanent and affects daily life.
This rare genetic growth disorder causes very small stature, developmental delay, and physical differences that can impact mobility, learning, and independence.
Families often ask, “is Seckel Syndrome funded by NDIS?” While diagnoses are not funded, supports may be provided based on the functional impact on everyday activities.
How NDIS Supports Seckel Syndrome / Primordial Dwarfism
- Therapies: Occupational Therapy (OT), Physiotherapy, and Speech Therapy to support mobility, development, and communication.
- Daily Living: Assistance with personal care, routines, mobility, and daily activities.
- Skill Development: Support with learning, communication, and building independence skills.
Eligibility & Application
- Permanent genetic condition
- Significant impact on growth, mobility, learning, or daily functioning
- Evidence from medical and allied health professionals required
Smith-Lemli-Opitz Syndrome
NDIS may fund support for people living with Smith-Lemli-Opitz Syndrome when the condition causes permanent functional impairment.
Smith-Lemli-Opitz Syndrome is a metabolic disorder that can affect development, behaviour, feeding, and physical health, often impacting daily functioning and independence.
Families often ask, “is Smith-Lemli-Opitz Syndrome funded by NDIS?” Supports may be provided based on how the condition affects daily life.
How NDIS Supports Smith-Lemli-Opitz Syndrome
- Therapies: Occupational Therapy (OT), Speech Therapy, and Behaviour Support to assist development, communication, and behaviour.
- Daily Living: Support with feeding, routines, personal care, and daily activities.
- Medical & Assistive Support: Coordination of supports for complex care needs and physical challenges.
Eligibility & Application
- Permanent metabolic condition.
- Significant impact on development, behaviour, feeding, and daily functioning.
- Medical diagnosis and allied health reports required.
Smith-Magenis Syndrome
A genetic condition causing developmental delay, sleep disturbances and behavioural challenges. Individuals benefit from structured routines and support with communication and daily activities.
Spinal Muscular Atrophy Types III & IV
Later-onset SMA causing progressive muscle weakness, reduced mobility and fatigue. People often need support with walking, transfers, independence and assistive equipment.
Sturge-Weber Syndrome
A neurological disorder involving abnormal brain blood vessels, seizures, vision issues and developmental delays. Individuals often need lifelong medical and daily living support.
Trisomy 9
A chromosomal disorder causing developmental disability, growth issues, feeding difficulties and physical abnormalities. Individuals require ongoing support across mobility, communication and daily care.
Tuberous Sclerosis
A genetic condition causing benign tumours, seizures and developmental delays. People often need medical management and support with learning, routines and daily functioning.
Turner Syndrome
A chromosomal condition in females affecting growth, hearing, learning and reproductive development. Individuals may require support with education, health monitoring and daily life skills.
Williams Syndrome
A condition featuring strong social skills alongside learning difficulties, anxiety and cardiovascular issues. Support is often needed for routines, emotional regulation and independence.
Wolf-Hirschhorn Syndrome
A rare chromosomal disorder causing developmental delays, seizures, growth issues and distinctive features. Children require long-term support for feeding, mobility, communication and daily care.
Conditions Causing Neurological Impairment
Alzheimer’s Dementia
A progressive neurological condition causing memory loss, confusion, personality changes and declining cognitive abilities.
Daily tasks, communication and decision-making become increasingly difficult over time. Individuals often require growing levels of support to manage routines, safety, self-care and emotional wellbeing.
Creutzfeldt-Jakob Disease (CJD)
A rare, rapidly progressive brain disorder causing severe cognitive decline, mobility loss, speech difficulties and neurological impairment.
Symptoms worsen quickly, leading to significant functional limitations. Individuals require intensive daily support, medical care and assistance with all aspects of daily living.
HIV-Associated Dementia
A form of cognitive impairment occurring in advanced HIV, affecting memory, concentration, mood and motor skills.
It can lead to difficulties with planning, communication, mobility and daily tasks. Ongoing medical management and support with routines, safety and independence are often required.
Huntington’s Disease
A hereditary, degenerative condition causing involuntary movements, coordination problems, mood changes and progressive cognitive decline.
Daily functioning gradually becomes more difficult, affecting mobility, communication, behaviour and self-care. Individuals require long-term support and assistance as symptoms worsen.
Multi-Infarct / Vascular Dementia
Caused by reduced blood flow to the brain, leading to memory problems, slowed thinking, confusion and mobility challenges.
The condition can progressively affect decision-making, communication and daily functioning. People often need support with routines, safety and managing health needs.
Parkinson’s Disease
A chronic neurological disorder affecting movement, balance, coordination and speech.
Tremors, stiffness and slowed movement can impact daily living, communication and independence. Later stages may involve cognitive or mood changes. People often require mobility assistance, therapy and ongoing daily support.
Post-Polio Syndrome
A condition occurring years after polio infection, causing new muscle weakness, fatigue, pain and reduced mobility.
Daily activities may become more difficult over time. Individuals often need support with movement, energy management, assistive equipment and daily routines.
Vascular Dementia
Cognitive decline caused by impaired blood flow to the brain. It affects memory, concentration, problem-solving, mood and mobility. Over time, individuals may struggle with communication, self-care and decision-making, requiring increasing support to manage daily activities safely and effectively.
Systemic Atrophies Affecting the Central Nervous System
- Abetalipoproteinaemia: A metabolic disorder causing neurological and balance problems.
- Adult-Onset SMA (Type III): Progressive muscle weakness and mobility challenges.
- Fazio-Londe Disease: A rare childhood disorder causing muscle weakness and breathing difficulty.
- Friedreich’s Ataxia: A genetic condition affecting balance, coordination and mobility.
- Hereditary Spastic Paraplegia: Progressive stiffness and weakness in the legs.
- Ataxia-Telangiectasia: A condition causing motor difficulties, weakened immunity and progressive neurological decline.
- Motor Neuron Disease / ALS: A severe progressive condition affecting movement, breathing and independence.
- Primary Lateral Sclerosis: A rare disorder causing slowly progressive muscle stiffness and weakness.
- Progressive Bulbar Palsy: Affects swallowing, speech and breathing.
- Spinocerebellar Ataxias: A group of inherited disorders causing loss of coordination, balance and movement.
Extrapyramidal & Movement Disorders
- Hallervorden-Spatz Syndrome / PKAN: A neurodegenerative condition causing movement difficulties and cognitive decline.
- Multiple System Atrophy (MSA): A progressive disorder affecting movement, speech and autonomic functions.
- Progressive Supranuclear Palsy: A neurological condition causing balance issues and difficulty with eye movement.
- Stiff-Person Syndrome: A condition causing muscle stiffness, spasms and mobility challenges.
Other Degenerative Diseases of the Nervous System
- Alzheimer’s Disease: Progressive cognitive decline affecting memory and behaviour.
- Alpers Disease: A childhood neurodegenerative condition causing seizures and developmental loss.
- Lewy Body Dementia: A condition causing fluctuations in cognition, visual hallucinations and movement changes.
- Pick’s Disease: A type of frontotemporal dementia affecting behaviour and personality.
Demyelinating Diseases
- Adrenoleukodystrophy: A genetic disorder damaging the brain and spinal cord.
- Multiple Sclerosis: A chronic condition affecting movement, sensation and daily functioning.
- Schilder’s Disease: A severe, non-remitting form of demyelination.
Episodic & Paroxysmal Disorders
- Stroke Syndromes (Brainstem, Cerebellar, Lacunar): Conditions affecting movement, balance and speech due to brain injury.
- Lennox-Gastaut Syndrome: A severe epilepsy syndrome with multiple seizure types and developmental impact.
- West Syndrome: A childhood epilepsy disorder causing spasms and developmental regression.
Polyneuropathies & Peripheral Nervous System Disorders
- Adult Refsum Disease: A metabolic condition affecting vision, smell and movement.
- Charcot-Marie-Tooth Disease: A hereditary nerve disorder causing muscle weakness and foot deformities.
- Dejerine-Sottas Disease: A severe childhood neuropathy causing weakness and developmental delay.
- Infantile Refsum Disease: A rare metabolic disorder affecting the eyes, nerves and development.
Other Nervous System Disorders
- Hydrocephalus: A condition involving increased fluid in the brain, affecting mobility and cognition.
- Multiple System Atrophy: A progressive disorder impacting movement and autonomic functions.
Conditions Resulting in Physical Impairment
Amputation / Congenital Limb Absence
Permanent absence of one or more limbs, present from birth or following injury or surgery. This affects mobility, balance, fine motor skills and independence in daily tasks. Individuals often require assistive devices, environmental adjustments and support with personal care, transfers or community access depending on the level of limb loss.
Epidermolysis Bullosa (EB)
A rare genetic condition causing extremely fragile skin that blisters or tears with minimal friction.
Severe forms lead to chronic wounds, infections, pain, mobility difficulties and feeding challenges.
Individuals often require daily wound care, specialised dressings, protective equipment and significant support with personal care and daily activities.
Harlequin Ichthyosis
A severe congenital skin disorder causing thick, plate-like skin that restricts movement, breathing and temperature regulation. Newborns require intensive medical care. Lifelong support may be needed for mobility, infection prevention, skin management, feeding and daily activities due to ongoing physical limitations and health risks.
Juvenile Arthritis / Stills Disease
Childhood autoimmune conditions causing joint inflammation, stiffness, pain and fatigue. Symptoms can limit mobility, school participation and daily activities.
Severe cases may lead to long-term joint damage. Children often need ongoing therapy, medication management, assistive equipment and support with routines and physical tasks.
Rheumatoid Arthritis (Severe Forms)
An autoimmune disease causing joint inflammation, pain, stiffness and fatigue. Severe forms lead to reduced mobility, difficulty performing daily tasks and progressive joint damage. Individuals may require medication, therapy, assistive equipment and regular support to manage personal care, mobility and household activities.
Diseases of the Myoneural Junction and Muscle
- Andersen-Tawil Syndrome / Periodic Paralysis / Myoplegia Paroxysmalis Familiaris: Causes episodes of muscle weakness or paralysis affecting mobility and daily functioning.
- Becker Muscular Dystrophy: A genetic condition causing progressive muscle weakness, impacting walking, stamina and physical independence.
- Congenital Muscular Dystrophy: Present from birth, causing muscle weakness, delayed development and reduced mobility.
- Distal Muscular Dystrophy: Affects muscles of the hands, feet and lower limbs, causing weakness and coordination difficulties.
- Duchenne Muscular Dystrophy: A severe, progressive muscle-wasting condition affecting mobility, breathing and daily independence.
- Facioscapulohumeral Muscular Dystrophy: Causes weakness in the face, shoulders and upper arms, affecting movement and daily activities.
- Limb-Girdle Muscular Dystrophy: Leads to progressive weakness of the hips and shoulders, impacting standing, walking and transfers.
- Mitochondrial Myopathy: A metabolic muscle disorder causing fatigue, weakness and reduced tolerance for physical activity.
- Myotonic Dystrophy / Dystrophia Myotonica: Causes prolonged muscle tightening, weakness and difficulty relaxing muscles after use.
- Myotonic Muscular Dystrophy: A neuromuscular condition causing muscle stiffness, weakness and fatigue.
- Myotubular Myopathy: A severe congenital muscle disorder causing low muscle tone, breathing difficulties and significant motor impairment.
Cerebral Palsy and Other Paralytic Syndromes (Not Meeting List A Severity)
- Cerebral Palsy: A developmental condition affecting movement, muscle tone and coordination with varying levels of functional impact.
- Diplegia: Paralysis or significant weakness affecting both legs more than the arms.
- Hemiplegia: Weakness or paralysis affecting one side of the body.
- Monoplegia: Paralysis or severe weakness affecting a single limb.
- Paraplegia: Paralysis of the lower body, affecting mobility and daily functioning.
- Quadriplegia: Paralysis of all four limbs, impacting mobility, self-care and independence.
- Tetraplegia: Similar to quadriplegia, involving loss of movement and sensation in the arms and legs.
Conditions Resulting in Sensory and/or Speech Impairment
Disorders of the Choroid and Retina
- Behr’s syndrome: Causes progressive vision loss, coordination issues and neurological symptoms.
- Kearns-Sayre syndrome: A mitochondrial disorder causing vision loss, muscle weakness and heart problems.
- Optic atrophy: Damage to the optic nerve leading to gradual, permanent vision loss.
- Retinitis pigmentosa: A genetic condition causing night blindness and progressive loss of peripheral vision.
- Retinoschisis: Splitting of retinal layers causing reduced vision, especially in young males.
- Stargardt disease: An inherited retinal disease causing early central vision loss.
- Usher syndrome: A condition causing both hearing loss and progressive vision loss.
Disorders Resulting in Hearing Loss
- Cortical deafness: Hearing loss caused by damage to the brain’s auditory pathways.
- Pendred syndrome: A genetic disorder causing hearing loss and thyroid issues.
- Sensorineural hearing loss: Permanent hearing loss due to inner ear or nerve damage.
- Stickler syndrome: A connective tissue disorder causing hearing, vision and joint problems.
- Usher syndrome: Causes combined hearing impairment and progressive blindness.
- Waardenburg syndrome: A genetic condition causing hearing loss and distinctive pigmentation changes.
Conditions Resulting in Multiple Types of Impairment
- Aceruloplasminemia: A metabolic disorder affecting movement, cognition and vision.
- Addison-Schilder disease / Adrenoleukodystrophy: A degenerative brain disorder causing mobility, behaviour and cognitive decline.
- Albinism: Impaired vision and light sensitivity due to reduced pigmentation.
- Arginosuccinic aciduria: A metabolic disorder causing developmental delay and neurological issues.
- Aspartylglucosaminuria: A rare condition causing intellectual disability and physical impairment.
- Cerebrotendinous xanthomatosis: Causes neurological decline, cataracts and mobility issues.
- Congenital cytomegalovirus infection: Causes hearing loss, developmental delay and vision impairment.
- Congenital iodine-deficiency syndrome / cretinism: Causes intellectual disability, growth issues and neurological impairment.
- Congenital rubella syndrome: Leads to hearing loss, vision impairment and heart defects.
- Glycine encephalopathy: Causes seizures, developmental delay and low muscle tone.
- GM1 gangliosidosis: A progressive condition causing loss of motor skills and cognitive decline.
- Hartnup disease: A metabolic condition affecting skin, coordination and growth.
- Homocystinuria: A genetic disorder causing vision issues, developmental delays and clotting problems.
- Lowe syndrome: Causes kidney issues, cataracts and significant developmental delay.
- Mannosidosis: A metabolic condition causing hearing loss, developmental delay and mobility issues.
- Menkes disease: A copper metabolism disorder causing severe developmental and neurological impairment.
- Mucolipidosis II: Causes coarse facial features, severe developmental delays and mobility limitations.
- Mucolipidosis III: A milder form causing joint stiffness and developmental challenges.
- Mucolipidosis IV: Causes vision impairment, developmental delay and motor difficulties.
- Neuronal ceroid lipofuscinosis (all types): A group of disorders causing seizures, vision loss and cognitive decline.
- Niemann-Pick disease: Causes neurological decline, organ enlargement and developmental regression.
- Pyruvate carboxylase deficiency: Leads to severe developmental delay and metabolic issues.
- Pyruvate dehydrogenase deficiency: Causes neurological impairment, seizures and mobility challenges.
- Sialidosis: A metabolic disorder causing vision problems, seizures and coordination difficulties.
- Sulfite oxidase deficiency: Causes severe neurological impairment and developmental failure.
Mucopolysaccharidoses (MPS Conditions)
- Scheie syndrome (MPS I-H): Causes joint stiffness, vision problems and mild developmental issues.
- Hurler-Scheie syndrome (MPS I H-S): Causes mobility issues, thickened features and developmental delays.
- Hunter syndrome (MPS II): Causes developmental decline, behavioural challenges and organ involvement.
- Morquio syndrome (MPS IVA): Causes skeletal abnormalities and mobility limitations.
- Maroteaux-Lamy syndrome (MPS VI): Causes joint stiffness, heart issues and reduced mobility.
- Sly syndrome (MPS VII): Causes developmental delay, enlarged organs and skeletal issues.
Congenital Conditions with Permanent Impairment
- Arnold-Chiari Type 2 or 3: Brain malformation causing coordination issues and mobility challenges.
- Microcephaly: Small head size leading to developmental delays and neurological impairment.
- Fetal alcohol spectrum disorder: Causes learning difficulties, behavioural challenges and developmental delays.
- Fetal hydantoin syndrome: Causes growth issues, developmental delays and facial differences.
- Spina bifida: A neural tube defect causing mobility, continence and neurological challenges.
- VATER / VACTERL association: A group of birth defects affecting vertebrae, airway, kidneys, limbs and development.
