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Rothmund-Thomson Syndrome

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Skin Abnormalities ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Infant, Newborn, Diseases ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ DNA Repair-Deficiency Disorders ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Abnormalities ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Rothmund-Thomson Syndrome 61 coordinate concepts ∟ Acrodermatitis \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosis \| ∟ Incontinentia Pigmenti \| ∟ Port-Wine Stain \| ∟ Pseudoxanthoma Elasticum \| ∟ Sclerema Neonatorum \| ∟ Xeroderma Pigmentosum \| ∟ Ataxia Telangiectasia \| ∟ Bloom Syndrome \| ∟ Cockayne Syndrome \| ∟ Colorectal Neoplasms, Hereditary Nonpolyposis \| ∟ Fanconi Anemia \| ∟ Li-Fraumeni Syndrome \| ∟ Nijmegen Breakage Syndrome \| ∟ Severe Combined Immunodeficiency \| ∟ Werner Syndrome \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Ichthyosis, X-Linked \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Sjogren-Larsson Syndrome \| ∟ Amniotic Band Syndrome \| ∟ Anemia, Neonatal \| ∟ Asphyxia Neonatorum \| ∟ Birth Injuries \| ∟ Cystic Fibrosis \| ∟ Epilepsy, Benign Neonatal \| ∟ Erythroblastosis, Fetal \| ∟ Hemorrhagic Disease of Newborn \| ∟ Hernia, Umbilical \| ∟ Hydrocephalus \| ∟ Hydrophthalmos \| ∟ Hyperbilirubinemia, Neonatal \| ∟ Hyperostosis, Cortical, Congenital \| ∟ Infant, Premature, Diseases \| ∟ Meconium Aspiration Syndrome \| ∟ Mobius Syndrome \| ∟ Neonatal Abstinence Syndrome \| ∟ Nystagmus, Congenital \| ∟ Ophthalmia Neonatorum \| ∟ Persistent Fetal Circulation Syndrome \| ∟ Persistent Hyperinsulinemia Hypoglycemia of Infancy \| ∟ Syphilis, Congenital \| ∟ Thanatophoric Dysplasia \| ∟ Toxoplasmosis, Congenital \| ∟ Wolman Disease X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Skin Abnormalities ∟ Rothmund-Thomson Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Rothmund-Thomson Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Infant, Newborn, Diseases ∟ Rothmund-Thomson Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ DNA Repair-Deficiency Disorders ∟ Rothmund-Thomson Syndrome Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Abnormalities ∟ Rothmund-Thomson Syndrome Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Rothmund-Thomson Syndrome Skin Abnormalities > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Skin Diseases, Genetic > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Infant, Newborn, Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) DNA Repair-Deficiency Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Skin Abnormalities > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) Skin Diseases, Genetic > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) X
historyNote*:	2006 (1964) X
publicMeSHNote*:	2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990 X
Scope note:	An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. X
activeMeSHYear*:	2006 \| 2007X
dateCreated*:	1999-01-01X
dateEstablished*:	1991-01-01X
dateRevised*:	2005-06-30X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Acrodermatitis \| Dyskeratosis Congenita \| Ectodermal Dysplasia \| Ehlers-Danlos Syndrome \| Epidermolysis Bullosa \| Ichthyosis \| Incontinentia Pigmenti \| Port-Wine Stain \| Pseudoxanthoma Elasticum \| Sclerema Neonatorum \| Xeroderma Pigmentosum \| Ataxia Telangiectasia \| Bloom Syndrome \| Cockayne Syndrome \| Colorectal Neoplasms, Hereditary Nonpolyposis \| Fanconi Anemia \| Li-Fraumeni Syndrome \| Nijmegen Breakage Syndrome \| Severe Combined Immunodeficiency \| Werner Syndrome \| Albinism \| Cutis Laxa \| Dermatitis, Atopic \| Ichthyosiform Erythroderma, Congenital \| Ichthyosis Bullosa of Siemens \| Ichthyosis Vulgaris \| Ichthyosis, X-Linked \| Keratoderma, Palmoplantar \| Keratosis Follicularis \| Leukokeratosis, Hereditary Mucosal \| Lipoid Proteinosis of Urbach and Wiethe \| Pemphigus, Benign Familial \| Porokeratosis \| Porphyria, Erythropoietic \| Porphyrias, Hepatic \| Sjogren-Larsson Syndrome \| Amniotic Band Syndrome \| Anemia, Neonatal \| Asphyxia Neonatorum \| Birth Injuries \| Cystic Fibrosis \| Epilepsy, Benign Neonatal \| Erythroblastosis, Fetal \| Hemorrhagic Disease of Newborn \| Hernia, Umbilical \| Hydrocephalus \| Hydrophthalmos \| Hyperbilirubinemia, Neonatal \| Hyperostosis, Cortical, Congenital \| Infant, Premature, Diseases \| Meconium Aspiration Syndrome \| Mobius Syndrome \| Neonatal Abstinence Syndrome \| Nystagmus, Congenital \| Ophthalmia Neonatorum \| Persistent Fetal Circulation Syndrome \| Persistent Hyperinsulinemia Hypoglycemia of Infancy \| Syphilis, Congenital \| Thanatophoric Dysplasia \| Toxoplasmosis, Congenital \| Wolman Disease X
URI:	X
Labels and equivalent concepts:	Synnynnäinen poikiloderma (fi) Synnynnäinen poikilodermia (fi, replaced) Synnynnäinen ihokirjotauti (fi, replaced) Rothmund-Thomsonin syndrooma (fi, replaced) Kongenitaalinen poikiloderma (fi, replaced) Kongenitaalinen poikilodermia (fi, replaced) Rothmund-Thomsonin oireyhtymä (fi, replaced) Poikiloderma congenitale (sv) Rothmund-Thomsons syndrom (sv, replaced) Poikiloderma Congenitale (en, replaced) Poikiloderma congenitale (la-FI, replaced) X
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