[A]
Aarskog syndrome 
Achondroplasia
Acid Maltase Deficiency
Acoustic Neuroma
Acrocallosal syndrome
Adams Oliver syndrome
Adrenoleukodystrophy
Aicardi syndrome
Alagille syndrome
Albinism
Alkaptonuria
Alpha l Antitrypsin Deficiency
Alpha Thalassaemia mental retardation on the X Chromosome
Alport syndrome
Alstroms syndrome
Amniotic Bands
Amyotrophic Lateral Sclerosis
Androgen Insensitivity
Angelman syndrome
Ankylosing Spondylitis
Aperts syndrome
Arthritis
Aspergers syndrome
Asthma
Ataxia -hereditary
[B]
Baller-Gerold syndrome
Bartter syndrome
Batten Disease
Beckwith-Wiedemann syndrome
Behr syndrome
Berarainelli syndrome
Bloom syndrome
BPES
[C]
Caffeys familial neurovisceral lipidosis
Caffeys generalized gangliosidosis
Caffeys Pseudo -Hurler syndrome
Camptomelic Dysplasia
Canavans Disease
Cardio facial cutaneous syndrome
Cardiomyopathy
Caroli syndrome
Carpal-tarsal osteolysis
Carpenter syndrome
Central Core Disease
Cerebellum Hypoplasia
Charcot-Marie-Tooth Disease
CHARGE Association
Chondrodysplasia
Chronic Granulomatous disease
Cleft Lip and Palate 
Cleidocranial  dysplasia
Cobalamin E, C/G deficiency
Cockayne syndrome
Coeliac Disease
Coffin-Lowry syndrome
Cohen syndrome
Combined Immune Deficiency Disease
Combined Immune deficiency disease
Congenital Adrenal Hperplasia
Congenital Anodontia
Congenital Cone dystrophy
Congenital dislocated hip
Congenital Myotonic Dystrophy
Congenital Prune Belly syndrome
Cooleys Anaemia - Thalassaemia
Cornelia-de Lange syndrome
Corticobasal degeneration
Craniosynostosis syndrome
Cri-du-chat syndrome
Crohns & Colitis
Crouzon syndrome
Cushing syndrome
Cyclical Vomiting Syndrome
Cystic Fibrosis
Cystinuria
Cytochrome C. Oxidase Deficiency
[D]
Dancing eye syndrome 
De Barsay syndrome
Dejerine-Sottas disease
Depressive & Manic Depressive
Dercum Disease
Diastematomyelia
Double Y syndrome
Down syndrome
Duane syndrome
Dubowitz syndrome
Dysautonomia
Dyschondroteosis
dysplasia
[E]
Ectodermal dysplasia
Ectrodactyly
Ehlers Danlos syndrome
Ellis-Van Creveld Syndrome
Epidermiolysis Bullosa
Epilepsy
Erythropoietic protoporphyria
[F]
Fabrys Disease
Facial Haemangioma
Facially disfigured
Familial adenomatous polyposis coli
Familial Mediterranean Fever
Fanconi Anaemia
Farber Lipogranulomatosis
Fazio-Londes syndrome
Fibrodysplasia Ossificans
Fibromyalgia hermaphroditism
48, XXXY
48, XXYY
49, XXXXY
Fragile X syndrome
Fraser syndrome
Friedreich Ataxia
Frontal Nasal Dysplasia
Fryns syndrome
[G]
Galactosaemia
Gardner syndrome
Gaucher Disease
Glucose 6 Phosphaate Dehydrogenase (G6PD) deficiency
Goldenhar syndrome
Goltz syndrome
Guillian Barr syndrome
[H]
Haemochromatosis
Haemophilia
Hajdu-Cheney syndrome
Hallermann-Strieff syndrome
Hallervorden-Spatz Disease
Hartnup Disease
Hemihypertrophy
Hemimegalencephaly
Hereditary Angioneurotic Oedema
Hereditary Fructose Intolerance
Hereditary Haemorrhagic Telangiectasia
Hereditary Multiple Exostoses
Hereditary Spastic Paraplegia
Hereditary Spherocytosis
Holt Oram syndrome
Homocystinuria
Hunter syndrome
Huntington Disease
Hydranencephaly
Hydrocephalus
Hydronephrosis
Hyper IGE syndrome
Hypertrophic Cardiomyopathy
Hypoadrenal Hyperthroidism
Hypoadrenal Hyperthyroidism
Hypomelanosis of Ito
Hypophosphatemic Bone Disease (HBD)
Hypopituitism
Hypoplastic left heart syndrome
Hypoplastic Primary Vitreous
Hypotension Orthostatic
Hypothyroidism
[I]
Idiopathic pulmonary fibrosis
Immotile Cilia syndrome
Immune deficiency disorders
Incontinentia Pigmentia
Intellectual disability
[J]
Jeune syndrome
Job syndrome
Johanson-Blizzard syndrome
Joubert syndrome
[K]
Kabuki Make-up syndrome
Kawasaki syndrome
Klinefelter syndrome (47,XXY)
Klippel-Feil syndrome
Krabbe Disease
Kyphomelic Dysplasia
[L]
Landau-Kleffner syndrome
Langer-Giedion syndrome
Larsen syndrome
Laurence-Moon-Biedl
Lebers Optic Atrophy
Leigh Disease
Lennox-Gastaut syndrome
Lesch Nyhan syndrome
Leukodystrophy
Lissencephaly
Long-chain-3-hydroxyacyl coenzyme A dehydrogenase deficiency
Lowe syndrome
Lymphas Genphasia
Lymphoedema
Lysosomal Storage Disorders
[M]
Machado syndrome
Maple Syrup Urine Disease
Marfan syndrome
Megalocornea Mental Retardation
MELAS syndrome
Menke syndrome
Methylmalonic acidemia
Microcephaly
Miller-Dieker syndrome
Minicore disease
Mitochondrial Myopathies
Moebius syndrome
Motor Neurone Disease 
Mucopolysaccharidosis
Multiple Endocrine Neoplasia 2B
Multiple Epiphyseal Dysplasia
Multiple Exostoses
Muscular Dystrophy
Myasthenia Gravis
Myotonic dystrophy
Myotubular Myopathy
[N]
Nager & Miller syndrome
Narcolepsy
Netherton syndrome
Neuroaxonal Dystrophia
Neurofibromatosis
Neuronal Intestinal Dysplasia
Niemann-Pick Disease
Nonketotic Hyperglycaemia
Noonan syndrome
Norrie syndrome
Nystagmus
[O]
Oculo-dento-digital syndrome
Ohdo syndrome
Olivo-Ponto-Cerebellar-Atrophy
Olliers Disease
Ophthalmia: Anophthalmia & Microphthalmia
Opitz Fg syndrome
Opitz trigonocephaly
Oral-Facial-Digital syndrome
Organicacidemia
Ornithone transcarbamylase deficiency
Osteogenesis Imperfecta
Osteopetrosis
[P]
Paget disease
Pallister-Hall syndrome
Pallister-Killain syndrome
Paroxysmal Nocturnal Haemoglobin
Partington syndrome
Peho syndrome
Pelizaeus-Merzbacher Disease
Pena-Shokeir syndrome type1
Pendred syndrome
Peripheral Neuropathy (CMT TypeII)
Perthes syndrome
Phenylketonuria (PKU)
Picks Disease
Pierre Robin syndrome
Poland syndrome
Polyostic Fibrous Dysplasia
Pompe disease
Popliteal Pterygium syndrome
Porphyria
Postnatal Psychosis
Potter syndrome
Prader-Willi syndrome
Pre-eclampsia
Primary Immune Deficiency 
Progeria
Pseudo hypoparathyroidism
Pseudoxanthoma Elasticum (PE)
Psoriasis
Pycnodysostosis
Pyridoxine dependency
Pyruvate dehydrogenase deficiency
Pyruvatekinase deficiency
[R]
Rare Chromosomes Disorders
Raynaud disease
Reflex sympathetic dystrophy syndrome
Refsum disease
Reinfenstein syndrome
Retinitis Pigmentosis
Rett syndrome
Richardson-Steele-Oblizewski syndrome
Russel-Silver syndrome
Rubinstein-Taybi syndrome
[S]
Saethre-Chotzen syndrome
Sandhoffs disease
Sanfilippo disease
Sarcoidosis
Schizophrenia
Schwachman syndrome
Severe Immune Deficiency
Short stature and Skeletal Dysplasia
Shprintzen syndrome
Simpson Golabi syndrome
Sjogren syndrome
Smith-Lemi-Opitz syndrome
Smith-Magenis syndrome
Sotos syndrome
Spina Bifida
Spinal Muscular Atrophy
Spinocerebellar Ataxia TypeII
Spondylometaepiphyseal dysplasia
Sponylo Epiphyseal Dysplasia
Sprintzen syndrome (Velo Facial Cardio syndrome)
Stargardts Disease
Stickler syndrome
Sturge Weber
[T]
TAR syndrome
Tay Sachs disease
Tetrasomy 9p osteoporosis
Thalassaemia
Tourette syndrome
Townes Brock syndrome
Treacher-Collins syndrome
Triple X syndrome (47,XXX)
Trisomy 13, Trisomy 18
Tuberous Sclerosis
Turner syndrome (45,X)
[U]
Usher syndrome
[V]
VATER Association
Velo-Cardio-Facial syndrome
Von Hippel-Lindau syndrome
Von Willerbrand disease
[W]
Weaver syndrome
Weill-Marchesani syndrome
Werdnig-Hoffman syndrome
West syndrome
Wiedemann-Rautenstrauch syndrome
Williams syndrome
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolf-Parkinson-White syndrome
Wolmans disease
[X]
Xeroderma Pigmentosa
XLP syndrome
[Z]
Zellweger syndrome

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