DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Craniofacial Abnormalities [C05.660.207] Craniofacial Abnormalities 22q11 Deletion Syndrome [C05.660.207.103] 22q11 Deletion Syndrome Cleidocranial Dysplasia [C05.660.207.207] Cleidocranial Dysplasia Costello Syndrome [C05.660.207.219] Costello Syndrome Craniofacial Dysostosis [C05.660.207.231] Craniofacial Dysostosis Craniosynostoses [C05.660.207.240] Craniosynostoses Donohue Syndrome [C05.660.207.325] Donohue Syndrome Holoprosencephaly [C05.660.207.410] Holoprosencephaly LEOPARD Syndrome [C05.660.207.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C05.660.207.532] Loeys-Dietz Syndrome Megalencephaly [C05.660.207.536] Megalencephaly Maxillofacial Abnormalities [C05.660.207.540] Maxillofacial Abnormalities Microcephaly [C05.660.207.620] Microcephaly Noonan Syndrome [C05.660.207.690] Noonan Syndrome Orofaciodigital Syndromes [C05.660.207.700] Orofaciodigital Syndromes Plagiocephaly [C05.660.207.707] Plagiocephaly Platybasia [C05.660.207.720] Platybasia Rubinstein-Taybi Syndrome [C05.660.207.850] Rubinstein-Taybi Syndrome Silver-Russell Syndrome [C05.660.207.925] Silver-Russell Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Chromosome Disorders [C16.131.260] Chromosome Disorders 22q11 Deletion Syndrome [C16.131.260.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.131.260.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.131.260.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.131.260.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.131.260.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.260.210] De Lange Syndrome Down Syndrome [C16.131.260.260] Down Syndrome Holoprosencephaly [C16.131.260.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.131.260.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.131.260.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.131.260.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.131.260.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.131.260.887] Smith-Magenis Syndrome Sotos Syndrome [C16.131.260.905] Sotos Syndrome Trisomy 13 Syndrome [C16.131.260.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.260.932] Trisomy 18 Syndrome WAGR Syndrome [C16.131.260.940] WAGR Syndrome Williams Syndrome [C16.131.260.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.131.260.985] Wolf-Hirschhorn Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Chromosome Disorders [C16.320.180] Chromosome Disorders 22q11 Deletion Syndrome [C16.320.180.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.320.180.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.320.180.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.320.180.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.320.180.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.320.180.210] De Lange Syndrome Down Syndrome [C16.320.180.260] Down Syndrome Holoprosencephaly [C16.320.180.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.320.180.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.320.180.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.320.180.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.320.180.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.320.180.887] Smith-Magenis Syndrome Sotos Syndrome [C16.320.180.905] Sotos Syndrome Trisomy 13 Syndrome [C16.320.180.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.320.180.932] Trisomy 18 Syndrome WAGR Syndrome [C16.320.180.940] WAGR Syndrome Williams Syndrome [C16.320.180.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.320.180.985] Wolf-Hirschhorn Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Dwarfism [C16.320.240] Dwarfism Achondroplasia [C16.320.240.500] Achondroplasia Cockayne Syndrome [C16.320.240.562] Cockayne Syndrome Congenital Hypothyroidism [C16.320.240.625] Congenital Hypothyroidism Laron Syndrome [C16.320.240.750] Laron Syndrome Mulibrey Nanism [C16.320.240.875] Mulibrey Nanism Silver-Russell Syndrome [C16.320.240.937] Silver-Russell Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Imprinting Disorders [C16.320.447] Imprinting Disorders Angelman Syndrome [C16.320.447.250] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.320.447.375] Beckwith-Wiedemann Syndrome Prader-Willi Syndrome [C16.320.447.500] Prader-Willi Syndrome Silver-Russell Syndrome [C16.320.447.750] Silver-Russell Syndrome

Silver-Russell Syndrome - Conceito preferido

Identificador do conceito	M0528886
Nota de escopo	Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Termo preferido	Silver-Russell Syndrome
Termo(s) alternativo(s)	Dwarfism, Silver Russell Dwarfism, Silver-Russell Russell Silver Syndrome Russell-Silver Syndrome Silver Russell Dwarfism Silver Russell Syndrome Silver-Russell Dwarfism Syndrome, Russell Silver Syndrome, Silver-Russell