DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Dwarfism [C05.116.099.343] Dwarfism Achondroplasia [C05.116.099.343.110] Achondroplasia Cockayne Syndrome [C05.116.099.343.250] Cockayne Syndrome Congenital Hypothyroidism [C05.116.099.343.347] Congenital Hypothyroidism Dwarfism, Pituitary [C05.116.099.343.445] Dwarfism, Pituitary Laron Syndrome [C05.116.099.343.679] Laron Syndrome Mulibrey Nanism [C05.116.099.343.796] Mulibrey Nanism Weill-Marchesani Syndrome [C05.116.099.343.957] Weill-Marchesani Syndrome DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Aicardi Syndrome [C11.270.019] Aicardi Syndrome Albinism [C11.270.040] Albinism Aniridia [C11.270.060] Aniridia Choroideremia [C11.270.142] Choroideremia Coloboma [C11.270.147] Coloboma Cone Dystrophy [C11.270.151] Cone Dystrophy Cone-Rod Dystrophies [C11.270.152] Cone-Rod Dystrophies Corneal Dystrophies, Hereditary [C11.270.162] Corneal Dystrophies, Hereditary Duane Retraction Syndrome [C11.270.235] Duane Retraction Syndrome Familial Exudative Vitreoretinopathies [C11.270.238] Familial Exudative Vitreoretinopathies Graves Ophthalmopathy [C11.270.240] Graves Ophthalmopathy Gyrate Atrophy [C11.270.468] Gyrate Atrophy Leber Congenital Amaurosis [C11.270.516] Leber Congenital Amaurosis Optic Atrophies, Hereditary [C11.270.564] Optic Atrophies, Hereditary Optic Nerve Hypoplasia [C11.270.588] Optic Nerve Hypoplasia Retinal Degeneration [C11.270.612] Retinal Degeneration Retinal Dysplasia [C11.270.660] Retinal Dysplasia Retinitis Pigmentosa [C11.270.684] Retinitis Pigmentosa Retinoblastoma [C11.270.862] Retinoblastoma Stargardt Disease [C11.270.872] Stargardt Disease Walker-Warburg Syndrome [C11.270.881] Walker-Warburg Syndrome Weill-Marchesani Syndrome [C11.270.921] Weill-Marchesani 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 Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Aicardi Syndrome [C16.320.290.019] Aicardi Syndrome Albinism [C16.320.290.040] Albinism Aniridia [C16.320.290.078] Aniridia Choroideremia [C16.320.290.142] Choroideremia Cone-Rod Dystrophies [C16.320.290.152] Cone-Rod Dystrophies Corneal Dystrophies, Hereditary [C16.320.290.162] Corneal Dystrophies, Hereditary Duane Retraction Syndrome [C16.320.290.235] Duane Retraction Syndrome Familial Exudative Vitreoretinopathies [C16.320.290.352] Familial Exudative Vitreoretinopathies Graves Ophthalmopathy [C16.320.290.410] Graves Ophthalmopathy Gyrate Atrophy [C16.320.290.468] Gyrate Atrophy Optic Atrophies, Hereditary [C16.320.290.564] Optic Atrophies, Hereditary Optic Nerve Hypoplasia [C16.320.290.612] Optic Nerve Hypoplasia Retinal Dysplasia [C16.320.290.660] Retinal Dysplasia Retinitis Pigmentosa [C16.320.290.684] Retinitis Pigmentosa Stargardt Disease [C16.320.290.724] Stargardt Disease Vitelliform Macular Dystrophy [C16.320.290.763] Vitelliform Macular Dystrophy Weill-Marchesani Syndrome [C16.320.290.842] Weill-Marchesani Syndrome DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Connective Tissue Diseases [C17.300] Connective Tissue Diseases Anetoderma [C17.300.116] Anetoderma Cartilage Diseases [C17.300.182] Cartilage Diseases Cellulitis [C17.300.185] Cellulitis Collagen Diseases [C17.300.200] Collagen Diseases Cutis Laxa [C17.300.230] Cutis Laxa Dermatomyositis [C17.300.250] Dermatomyositis Dupuytren Contracture [C17.300.270] Dupuytren Contracture Fibromatosis, Plantar [C17.300.349] Fibromatosis, Plantar Homocystinuria [C17.300.428] Homocystinuria Lipedema [C17.300.451] Lipedema Lupus Erythematosus, Cutaneous [C17.300.475] Lupus Erythematosus, Cutaneous Lupus Erythematosus, Systemic [C17.300.480] Lupus Erythematosus, Systemic Marfan Syndrome [C17.300.500] Marfan Syndrome Mixed Connective Tissue Disease [C17.300.540] Mixed Connective Tissue Disease Mucinoses [C17.300.550] Mucinoses Neoplasms, Connective Tissue [C17.300.680] Neoplasms, Connective Tissue Noonan Syndrome [C17.300.690] Noonan Syndrome Osteopoikilosis [C17.300.705] Osteopoikilosis Panniculitis [C17.300.710] Panniculitis Penile Induration [C17.300.715] Penile Induration Pseudoxanthoma Elasticum [C17.300.766] Pseudoxanthoma Elasticum Rheumatic Diseases [C17.300.775] Rheumatic Diseases Scleroderma, Localized [C17.300.787] Scleroderma, Localized Scleroderma, Systemic [C17.300.799] Scleroderma, Systemic Undifferentiated Connective Tissue Diseases [C17.300.849] Undifferentiated Connective Tissue Diseases Weill-Marchesani Syndrome [C17.300.899] Weill-Marchesani Syndrome

Weill-Marchesani Syndrome - Conceito preferido

Identificador do conceito	M0529438
Nota de escopo	Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
Termo preferido	Weill-Marchesani Syndrome
Termo(s) alternativo(s)	Congenital Mesodermal Dysmorphodystrophies Congenital Mesodermal Dysmorphodystrophy Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Mesodermal Marchesani Syndrome Marchesani Weill Syndrome Marchesani-Weill Syndrome Marchesani-Weill Syndromes Mesodermal Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Spherophakia-Brachymorphia Syndrome Syndrome, Spherophakia Brachymorphia Syndromes, Spherophakia Brachymorphia Weill Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive - Mais específico

Identificador do conceito	M0529440
Nota de escopo	The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.
Termo preferido	Weill-Marchesani Syndrome, Autosomal Recessive
Termo(s) alternativo(s)	Weill Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant - Mais específico

Identificador do conceito	M0529439
Nota de escopo	The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations.
Termo preferido	Weill-Marchesani Syndrome, Autosomal Dominant
Termo(s) alternativo(s)	GEMSS Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Weill Marchesani Syndrome, Autosomal Dominant