DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Dysostoses [C05.116.099.370] Dysostoses Synostosis [C05.116.099.370.894] Synostosis Syndactyly [C05.116.099.370.894.819] Syndactyly Acrocephalosyndactylia [C05.116.099.370.894.819.100] Acrocephalosyndactylia Fraser Syndrome [C05.116.099.370.894.819.428] Fraser Syndrome Poland Syndrome [C05.116.099.370.894.819.756] Poland Syndrome DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Limb Deformities, Congenital [C05.660.585] Limb Deformities, Congenital Syndactyly [C05.660.585.800] Syndactyly Acrocephalosyndactylia [C05.660.585.800.100] Acrocephalosyndactylia Fraser Syndrome [C05.660.585.800.428] Fraser Syndrome Poland Syndrome [C05.660.585.800.756] Poland Syndrome DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Synostosis [C05.660.906] Synostosis Syndactyly [C05.660.906.819] Syndactyly Acrocephalosyndactylia [C05.660.906.819.100] Acrocephalosyndactylia Fraser Syndrome [C05.660.906.819.428] Fraser Syndrome Poland Syndrome [C05.660.906.819.756] Poland Syndrome DISEASES Eye Diseases [C11] Eye Diseases Eye Abnormalities [C11.250] Eye Abnormalities Aniridia [C11.250.060] Aniridia Anophthalmos [C11.250.080] Anophthalmos Blepharophimosis [C11.250.090] Blepharophimosis Choroidal Effusions [C11.250.105] Choroidal Effusions Coloboma [C11.250.110] Coloboma Ectopia Lentis [C11.250.300] Ectopia Lentis Familial Exudative Vitreoretinopathies [C11.250.345] Familial Exudative Vitreoretinopathies Fraser Syndrome [C11.250.390] Fraser Syndrome Hydrophthalmos [C11.250.480] Hydrophthalmos Microphthalmos [C11.250.566] Microphthalmos Persistent Hyperplastic Primary Vitreous [C11.250.616] Persistent Hyperplastic Primary Vitreous Retinal Dysplasia [C11.250.666] Retinal Dysplasia DISEASES Urogenital Diseases [C12] Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications [C12.050] Female Urogenital Diseases and Pregnancy Complications Female Urogenital Diseases [C12.050.351] Female Urogenital Diseases Urogenital Abnormalities [C12.050.351.875] Urogenital Abnormalities Bladder Exstrophy [C12.050.351.875.132] Bladder Exstrophy Disorders of Sex Development [C12.050.351.875.253] Disorders of Sex Development Epispadias [C12.050.351.875.374] Epispadias Fraser Syndrome [C12.050.351.875.397] Fraser Syndrome Fused Kidney [C12.050.351.875.420] Fused Kidney Hypospadias [C12.050.351.875.466] Hypospadias Multicystic Dysplastic Kidney [C12.050.351.875.558] Multicystic Dysplastic Kidney Nephritis, Hereditary [C12.050.351.875.742] Nephritis, Hereditary Retrocaval Ureter [C12.050.351.875.811] Retrocaval Ureter Solitary Kidney [C12.050.351.875.846] Solitary Kidney Urinary Fistula [C12.050.351.875.881] Urinary Fistula Uterine Duplication Anomalies [C12.050.351.875.940] Uterine Duplication Anomalies DISEASES Urogenital Diseases [C12] Urogenital Diseases Male Urogenital Diseases [C12.200] Male Urogenital Diseases Urogenital Abnormalities [C12.200.706] Urogenital Abnormalities Bladder Exstrophy [C12.200.706.132] Bladder Exstrophy Cryptorchidism [C12.200.706.258] Cryptorchidism Disorders of Sex Development [C12.200.706.316] Disorders of Sex Development Epispadias [C12.200.706.374] Epispadias Fraser Syndrome [C12.200.706.410] Fraser Syndrome Fused Kidney [C12.200.706.445] Fused Kidney Hypospadias [C12.200.706.516] Hypospadias Multicystic Dysplastic Kidney [C12.200.706.629] Multicystic Dysplastic Kidney Nephritis, Hereditary [C12.200.706.742] Nephritis, Hereditary Retrocaval Ureter [C12.200.706.811] Retrocaval Ureter Solitary Kidney [C12.200.706.846] Solitary Kidney Urinary Fistula [C12.200.706.881] Urinary Fistula Uterine Duplication Anomalies [C12.200.706.940] Uterine Duplication Anomalies DISEASES Urogenital Diseases [C12] Urogenital Diseases Urogenital Abnormalities [C12.800] Urogenital Abnormalities Bladder Exstrophy [C12.800.132] Bladder Exstrophy Cryptorchidism [C12.800.258] Cryptorchidism Disorders of Sex Development [C12.800.316] Disorders of Sex Development Epispadias [C12.800.374] Epispadias Fraser Syndrome [C12.800.410] Fraser Syndrome Fused Kidney [C12.800.445] Fused Kidney Hypospadias [C12.800.516] Hypospadias Multicystic Dysplastic Kidney [C12.800.629] Multicystic Dysplastic Kidney Nephritis, Hereditary [C12.800.742] Nephritis, Hereditary Retrocaval Ureter [C12.800.811] Retrocaval Ureter Solitary Kidney [C12.800.846] Solitary Kidney Urinary Fistula [C12.800.881] Urinary Fistula Uterine Duplication Anomalies [C12.800.940] Uterine Duplication Anomalies 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 Eye Abnormalities [C16.131.384] Eye Abnormalities Aniridia [C16.131.384.079] Aniridia Anophthalmos [C16.131.384.159] Anophthalmos Blepharophimosis [C16.131.384.190] Blepharophimosis Coloboma [C16.131.384.282] Coloboma Ectopia Lentis [C16.131.384.405] Ectopia Lentis Familial Exudative Vitreoretinopathies [C16.131.384.424] Familial Exudative Vitreoretinopathies Fraser Syndrome [C16.131.384.442] Fraser Syndrome Hydrophthalmos [C16.131.384.480] Hydrophthalmos Microphthalmos [C16.131.384.666] Microphthalmos Persistent Hyperplastic Primary Vitreous [C16.131.384.725] Persistent Hyperplastic Primary Vitreous Retinal Dysplasia [C16.131.384.784] Retinal Dysplasia DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Limb Deformities, Congenital [C16.131.621.585] Limb Deformities, Congenital Syndactyly [C16.131.621.585.800] Syndactyly Acrocephalosyndactylia [C16.131.621.585.800.100] Acrocephalosyndactylia Fraser Syndrome [C16.131.621.585.800.428] Fraser Syndrome Poland Syndrome [C16.131.621.585.800.756] Poland Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Synostosis [C16.131.621.906] Synostosis Syndactyly [C16.131.621.906.819] Syndactyly Acrocephalosyndactylia [C16.131.621.906.819.100] Acrocephalosyndactylia Fraser Syndrome [C16.131.621.906.819.428] Fraser Syndrome Poland Syndrome [C16.131.621.906.819.756] Poland Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Urogenital Abnormalities [C16.131.939] Urogenital Abnormalities Bladder Exstrophy [C16.131.939.132] Bladder Exstrophy Cryptorchidism [C16.131.939.258] Cryptorchidism Disorders of Sex Development [C16.131.939.316] Disorders of Sex Development Epispadias [C16.131.939.374] Epispadias Fraser Syndrome [C16.131.939.410] Fraser Syndrome Fused Kidney [C16.131.939.445] Fused Kidney Hypospadias [C16.131.939.516] Hypospadias Multicystic Dysplastic Kidney [C16.131.939.629] Multicystic Dysplastic Kidney Nephritis, Hereditary [C16.131.939.742] Nephritis, Hereditary Pyelectasis [C16.131.939.831] Pyelectasis Retrocaval Ureter [C16.131.939.915] Retrocaval Ureter Uterine Duplication Anomalies [C16.131.939.957] Uterine Duplication Anomalies

Fraser Syndrome - Conceito preferido

Identificador do conceito	M0542891
Nota de escopo	Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Termo preferido	Fraser Syndrome
Termo(s) alternativo(s)	Cryptophthalmos Syndactyly Syndrome Cryptophthalmos with Other Malformations Cryptophthalmos-Syndactyly Syndrome Cryptophthalmos-Syndactyly Syndromes Syndrome, Fraser