Synonyms for conditions are also shown (e.g. condition / synonym / synonym)
Conditions primarily resulting in Neurological impairment
Chromosomal abnormalities resulting in permanent impairment
- Global Developmental Delay
- Aicardi syndrome
- Aicardi-Goutières syndrome
- Angelman syndrome
- CHARGE syndrome
- Cockayne syndrome/ Types I and Type II / Cerebro-oculo-faciao-skeletal (COFS) syndrome/ Pena Shokeir syndrome Type II / Weber-Cockayne syndrome/ Neill-Dingwall syndrome
- Coffin-Lowry syndrome
- Cohen syndrome
- Cornelia de Lange syndrome
- Cri du Chat syndrome
- Dandy-Walker syndrome
- DiGeorge syndrome/ 22q11.2 deletion syndrome/ Velocardiofacial syndrome/ Shprintzen syndrome/ Conotruncal anomaly face syndrome
- Down syndrome/ Trisomy 21
- Edwards syndrome/ Trisomy 18
- Fragile X syndrome
- Kabuki syndrome
- Lesch-Nyhan syndrome/ Nyhan’s syndrome/ Kelley-Seegmiller syndrome/ Juvenile gout
- Leigh syndrome/ Leigh’s disease/ subacute necrotizing encephalomyelopathy
- Menkes disease
- Patau syndrome/ Trisomy 13
- Prader-Willi syndrome
- Rett syndrome
- Seckel syndrome/ microcephalic primordial dwarfism/ Harper’s syndrome/ Virchow-Seckel dwarfism
- Smith-Lemli-Optiz syndrome
- Smith-Magenis syndrome
- Sturge-Weber syndrome
- Trisomy 9
- Tuberous sclerosis
- Williams syndrome
- Wolf-Hirschhorn syndrome.
Conditions primarily resulting in neurological impairment
Systemic atrophies primarily affecting the central nervous system
- Friedrich’s ataxia
- Hereditary spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11
- Louis-Bar syndrome/ Ataxia-telangiectasia
- Niemann-Pick disease (Types A and C)
- Progressive bulbar palsy of childhood/ Fazio-Londe disease.
The following spinal muscular atrophies
- Spinal muscular atrophy Type I/ Werdnig Hoffmann disease/ infantile SMA
- Spinal muscular atrophy Type II/ Dubowitz disease
- Spinal muscular atrophy Type III Kugelberg-Welander disease/ juvenile SMA
- Spinal muscular atrophy lower extremity dominant/ SMA-LED
- X-linked spinal muscular atrophy.
Extrapyramidal and movement disorders
- Hallervorden-Spatz syndrome / Pantothenate kinase-associated neurodegeneration (PKAN)/ neurodegeneration with brain iron accumulation 1 (NBIA 1)
- Alpers disease/ Alpers syndrome/ Grey-matter degeneration/ Progressive sclerosing poliodystrophy/ Progressive infantile poliodystrophy
- Demyelinating diseases of the central nervous system
- Adrenoleukodystrophy / X-linked childhood cerebral form
- Alexander disease
- Canavan disease
- Krabbe disease/ Globoid cell leukodystrophy
- Pelizaeus-Merzbacher disease.
Episodic and paroxysmal disorders
- Lennox-Gastaut syndrome/ Lennox syndrome
- West’s syndrome.
Polyneuropathies and other disorders of the peripheral nervous system
- Dejerine-Sottas disease/ Dejerine-Sottas syndrome/ Dejerine-Sottas neuropathy/ progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy
- Infantile Refsum disease.
Conditions primarily resulting in physical impairment
- Amputation
- Diamond-Blackfan anaemia
- Epidermolysis bullosa
- Harlequin type icthyosis
- Hay Wells syndrome/ ankyloblepharon/ ectodermal dysplasia/ clefting [AEC] syndrome
- Joint or limb deformities resulting in impaired mobility
- Juvenile arthritis/ Stills Disease
- Osteogenesis imperfecta
- Sjogren Larsson syndrome.
Diseases of myoneural junction and muscle
- Congenital muscular dystrophy
- Congenital myotonia / Thomsens disease/ Becker myotonia
- Distal muscular dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Myotubular myopathy
- Oculopharyngeal muscular dystrophy
- Paramyotonia Congenita.
Cerebral palsy and other paralytic syndromes
- Cerebral palsy
- Diplegia
- Hemiplegia
- Monoplegia
- Paraplegia
- Quadriplegia
- Tetraplegia.
Conditions resulting in sensory and/or speech impairment
- Permanent blindness in both eyes, diagnosed and assessed by an ophthalmologist as follows either:
- Corrected visual acuity (extent to which an object can be brought into focus) on the Snellen Scale must be less than or equal to 6/60 in both eyes
- Constriction to within 10 degrees or less of arc of central fixation in the better eye, irrespective of corrected visual acuity (i.e. visual fields are reduced to a measured arc of 10 degrees or less
- A combination of visual defects resulting in the same degree of visual impairment as that occurring in the above points.
- (An optometrist report is not sufficient for NDIS purposes.)
- Deafblindness confirmed by ophthalmologist and audiologist and assessed as resulting in permanent and severe to total impairment of visual function and hearing.
Conditions resulting in multiple types of impairment
- Aceruloplasminemia
- Addison-Schilder disease/ Adrenoleukodystrophy /
- Albinism
- Arginosuccinic aciduria
- Aspartylglucosaminuria
- Cerebrotendinous xanthomatosis/ cerebral cholesterosis
- Congenital cytomegalovirus infection
- Congenital hypothyroidism
- Congenital iodine-deficiency syndrome /cretinism
- Congenital rubella syndrome
- Galactosaemia with long term learning disabilities and neurological impairment
- Glycine encephalopathy/ non-ketotic hyperglycinaemia
- GM1 gangliosidosis
- Hartnup disease
- Homocystinuria
- Lowe syndrome/ Oculocerebrorenal syndrome
- Mannosidosis
- Menkes disease
- Mucolipidosis II / I-cell disease
- Mucolipidosis III / pseudo-Hurler polydystrophy
- Mucolipidosis IV
- Neuronal ceroid lipofuscinosis
- Niemann-Pick disease
- Phenylketonuria
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase deficiency
- Sialidosis
- Sulfite oxidase deficiency.
The following mucopolysaccharidoses
- Hurler syndrome/MPS1-H
- Scheie syndrome/ MPS 1-S
- Hurler-Scheie syndrome/ MPS 1 H-S
- Hunter syndrome/ MPS II
- San Fillipo syndrome/ MPS III
- Morquio syndrome/ MPS IVA
- Maroteaux-Lamy syndrome/ MPS VI
- Sly syndrome/ MPS VII.
The following lysosomal storage disorders
- Gaucher disease Types 2 and 3
- Niemann-Pick disease (Types A and C)
- Pompe disease
- Sandhoff disease (infantile form)
- Schindler disease (Type 1)
- Tay-Sachs disease (infantile form).
Congenital conditions – cases where malformations cannot be corrected by surgery or other treatment and result in permanent impairment
- Chiari malformation/Arnold-Chiari malformation
- Congenital absence of limb(s)
- Congenital hydrocephalus
- Fetal alcohol spectrum disorder
- Fetal hydantoin syndrome
- Microcephaly
- Spina bifida
- VATER syndrome (VACTERL association).