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Bloom Syndrome
Bloom syndrome
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Genodermatoses
(157)
Ataxia telangiectasia
Congenital ichthyosiform erythroderma
Dermatopathia pigmentosa reticularis
Ectodermal dysplasia
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Familial cutaneous papillomatosis
Harlequin type ichthyosis
Hay-Wells syndrome
Ichthyosis lamellaris
Kindler syndrome
Lelis syndrome
Meleda Disease
Naegeli syndrome
Rothmund-thomson syndrome
Werner syndrome
Xeroderma pigmentosum
Zunich Kaye syndrome
18q deletion syndrome
Acrocephal- osyndactylia
Acrodermatitis enteropathica
Acrokeratosis verruciformis
Adams–Oliver syndrome
Adducted thumbs syndrome
Albright's hereditary osteodystrophy
Apert syndrome
Aplasia cutis congenita
Arrhythmogenic right ventricular dysplasia
Atrichia with papular lesions
Atrophodermia vermiculata
Autoimmune polyendocr- inopathy–candidiasis–ectodermal dystrophy syndrome
BIDS syndrome
Bart syndrome
CHILD syndrome
Cardiofaci- ocutaneous syndrome
Cartilage–hair hypoplasia
Carvajal syndrome
Chondrodysplasia punctata
Cicatricial junctional epidermolysis bullosa
Clouston's hidrotic ectodermal dysplasia
Cockayne syndrome
Conradi–Hünermann syndrome
Costello syndrome
Cronkhite-Canada syndrome
Crouzon syndrome
Cutis verticis gyrata
Darier's disease
Disseminated superficial actinic porokeratosis
Disseminated superficial porokeratosis
Dominant dystrophic epidermolysis bullosa
Dyschromatosis universalis hereditaria
Dyskeratosis congenita
Ectodermal dysplasia with corkscrew hairs
Ectrodacty- ly-ectodermal dysplasia-cleft syndrome
Epidermolysis bullosa
Epidermolysis bullosa herpetiformis
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex of Ogna
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolytic hyperkeratosis
Erythrokeratodermia variabilis
Focal dermal hypoplasia
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
Follicular atrophoderma
Franceschetti–Klein syndrome
Freeman-Sheldon syndrome
Generalized atrophic benign epidermolysis bullosa
Generalized epidermolysis bullosa simplex
Generalized trichoepithelioma
Hailey-Hailey disease
Hallermann-Streiff syndrome
Hereditary sclerosing poikiloderma
Hypohidrotic ectodermal dysplasia
IBIDS syndrome
IFAP syndrome
Ichthyosis
Ichthyosis bullosa of Siemens
Ichthyosis hystrix
Ichthyosis linearis circumflexa
Ichthyosis vulgaris
IgA pemphigus
Incontinentia pigmenti
Incontinentia pigmenti achromians
Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa gravis
Keratitisâ- €“ichthyosis–deafness syndrome
Keratolytic winter erythema
Keratosis follicularis spinulosa decalvans
Keratosis pilaris
Keratosis pilaris atrophicans faciei
Klinefelter's syndrome
Klippel–Feil syndrome
LEOPARD syndrome
Lentiginosis
Lenz–Majewski syndrome
Linear Darier disease
Linear and whorled nevoid hypermelanosis
Linear porokeratosis
Localized epidermolysis bullosa simplex
Mandibuloacral dysplasia
Marinesco–Sjögren syndrome
McCusick syndrome
Mitis junctional epidermolysis bullosa
Multiple sulfatase deficiency
Netherton syndrome
Neurofibromatosis
Neurofibromatosis type 3
Neurofibromatosis type 4
Neurofibromatosis type I
Neutral lipid storage disease
Noonan syndrome
Odonto–T- richo–Ungual–Digital–Palmar syndrome
PIBI(D)S syndrome
POEMS syndrome
Pachydermo- periostosis
Pachyonychia congenita
Pachyonychia congenita type I
Pachyonychia congenita type II
Papillon–Lefèvre syndrome
Peeling skin syndrome
Pfeiffer syndrome
Pityriasis rotunda
Plaque-type porokeratosis
Polyostotic fibrous dysplasia
Popliteal pterygium syndrome
Porokeratosis
Porokeratosis palmaris et plantaris disseminata
Progeria
Progressive symmetric erythrokeratodermia
Proteus syndrome
Punctate porokeratosis
Rapp–Hodgkin syndrome
Recessive dystrophic epidermolysis bullosa
Refsum's disease
Relapsing linear acantholytic dermatosis
Restrictive dermopathy
Rhizomelic chondrodysplasia punctata
Rombo syndrome
Scleroatrophic syndrome of Huriez
Sjögren–Larsson syndrome
Tooth and nail syndrome
Transient bullous dermolysis of the newborn
Treacher Collins syndrome
Tricho–r- hino–phalangeal syndrome
Tuberous sclerosis
Turner syndrome
Ulerythema
Ulnar–mammary syndrome
Von Hippel – Lindau disease
Watson syndrome
Westerhof syndrome
Wilson–Turner syndrome
Wolf–Hirschhorn syndrome
X-linked ichthyosis
X-linked recessive chondrodysplasia punctata
XXYY syndrome
Zimmermann–Laband syndrome
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Ashkenazi Jews topics
(8)
Ashkenazi Jewish
Fanconi anemia
Tay Sachs disease
Niemann Pick disease
Gaucher disease
Gaucher disease
Mucolipidosis IV
Canavan disease
Familial Dysautonomia (FD)
more...
Syndromes
(18)
Eem syndrome
Fetofetal transfusion
Hereditary sensory and autonomic neuropathies
Triple-x females
Angelman syndrome
Angelman syndrome
Alport syndrome
Lynch syndrome
Syndrome
Seratonin syndrome
Restless leg syndrome
Oral allergy syndrome
Lelis syndrome
Zunich Kaye syndrome
Werner syndrome
Naegeli syndrome
Rothmund-thomson syndrome
Familial Dysautonomia (FD)
Hay-Wells syndrome
more...
Autosomal recessive disorders
(22)
Gerodermia osteodysplastica
Leukodystrophy, globoid cell
Batten disease
Blue diaper syndrome
Biotinidase deficiency
Biotinidase deficiency
Eem syndrome
Zunich Kaye syndrome
Meleda Disease
Ichthyosis lamellaris
Werner syndrome
Fanconi anemia
Congenital ichthyosiform erythroderma
Kindler syndrome
Tay Sachs disease
Niemann Pick disease
Xeroderma pigmentosum
Gaucher disease
Mucolipidosis IV
Canavan disease
Rothmund-thomson syndrome
Familial Dysautonomia (FD)
Harlequin type ichthyosis
more...
Rare diseases
(21)
Birt-Hogg-Dube syndrome
Lelis syndrome
Familial cutaneous papillomatosis
Eem syndrome
Gerodermia osteodysplastica
Gerodermia osteodysplastica
Zunich Kaye syndrome
Meleda Disease
Ichthyosis lamellaris
Werner syndrome
Congenital ichthyosiform erythroderma
Kindler syndrome
Tay Sachs disease
Niemann Pick disease
Dermatopathia pigmentosa reticularis
Leukodystrophy, globoid cell
Angelman syndrome
Gaucher disease
Naegeli syndrome
Rothmund-thomson syndrome
Hay-Wells syndrome
Harlequin type ichthyosis
more...
Genetic disorders
(38)
DNA repair-deficiency disorder
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Biedl-Bardet syndrome
Galactosemias
Galactosemias
Genetic diseases
Chromosome abnormalities
Branchiootorenal syndrome
Beta thalassemia
Hereditary hemorrhagic telangiectasia
Lelis syndrome
Familial cutaneous papillomatosis
Eem syndrome
Gerodermia osteodysplastica
Zunich Kaye syndrome
Ichthyosis lamellaris
Werner syndrome
Fanconi anemia
Congenital ichthyosiform erythroderma
Kindler syndrome
Tay Sachs disease
Ataxia telangiectasia
Niemann Pick disease
Dermatopathia pigmentosa reticularis
Leukodystrophy, globoid cell
Hereditary sensory and autonomic neuropathies
Triple-x females
Angelman syndrome
Gaucher disease
Mucolipidosis IV
Canavan disease
Rothmund-thomson syndrome
Alport syndrome
Batten disease
Hay-Wells syndrome
Birt-Hogg-Dube syndrome
Blue diaper syndrome
Biotinidase deficiency
more...
Diseases and disorders
(59)
Glossopharyngeal nerve diseases
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Blepharophimosis ptosis epicanthus inversus
Blepharophimosis ptosis epicanthus inversus
Enterocolitis, pseudomembranous
Physiologic nystagmus
Histiocytosis non-langerhans-cell
Bowen syndrome
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Brachial plexus neuropathies
Intervertebral disk displacement
Rosenthal syndrome
Familial cancer
Bile duct cancer extrahepatic
Acute myelogenous leukemia
Optic neuropathy, ischemic
Eem syndrome
Gerodermia osteodysplastica
Zunich Kaye syndrome
Meleda Disease
Ichthyosis lamellaris
Werner syndrome
Fanconi anemia
Fetofetal transfusion
Tay Sachs disease
Ataxia telangiectasia
Niemann Pick disease
Dermatopathia pigmentosa reticularis
Hyperostosis, cortical, congenital
Leukodystrophy, globoid cell
Xeroderma pigmentosum
Hereditary sensory and autonomic neuropathies
Biedl-Bardet syndrome
Triple-x females
Angelman syndrome
Gaucher disease
Naegeli syndrome
Mucolipidosis IV
Canavan disease
Alport syndrome
Familial Dysautonomia (FD)
Epidermolysis bullosa dystrophica
Galactosemias
Batten disease
Hay-Wells syndrome
Chromosome abnormalities
Branchiootorenal syndrome
Blue diaper syndrome
Beta thalassemia
Hereditary hemorrhagic telangiectasia
Harlequin type ichthyosis
Ectodermal dysplasia
Biotinidase deficiency
Restless leg syndrome
more...
Lipid storage disorders
(14)
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Gangliosidosis
Gaucher disease
Leukodystrophy, globoid cell
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
more...
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Leukodystrophy, globoid cell
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Metabolic disorders
(60)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
Galactosemias
Galactosemic cataract
Gangliosidosis
Gaucher disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Lactose intolerance
Leukodystrophy, globoid cell
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Leukodystrophy, globoid cell
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger syndrome
Inborn error of metabolism
Li-Fraumeni syndrome
Nijmegen breakage syndrome
Severe combined immunodeficiency
Werner syndrome
Fanconi anemia
Cockayne syndrome
See also
(20)
Bloom syndrome (gene)
Nevus flammeus nuchae
Integument
Subcutaneous tissue
Congenital disorders
Congenital disorders
Congenital malformations
Autosomal recessive
RecQ helicase
Autosomal dominant
RECQL2
Beta-globin
Bilayer lipid membrane
DNA repair
Am. J. Med. Genet.
Chromosome analysis
Cadherin
Dna helicases
Visual pathway glioma
Brosh
Acantholysis
more...
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