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Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) Macrencephaly Macrocephaly Macrodactyly/Megalodactyly Macroglossia Macrogyria Macular Dystrophy Macules Madelung's Deformity Majewski Syndrome Mal de Meleda Male Pseudohermaphroditism Male Turner Syndrome Malignant Hyperthermia Malrotation/Midgut Volvulus Mannosidosis(, Alpha B, Lysomal) Maple Syrup Urine Disease (Branched Chain Ketoaciduria, Leucinosis, MSUD) Marble Bones Marfan Syndrome Marie Sainton Disease Marie Strumpell Disease/Spondylitis Marinesco Sjogren Like Syndrome (Juvenile Cataract with Cerebellar Atrophy, Myopathy and Mental Retardation) Marker X Syndrome Maroteaux Cohen Solal Bonaventure Syndrome Maroteaux Fonfria Syndrome Maroteaux Lamy Syndrome (Arylsulfatase B Deficiency; Mucopolysaccharidosis, Type VI; Polydystrophic Dwarfism) Maroteaux Le Merrer Bensahel Syndrome (Carpo Tarsal Osteochondromatosis) Maroteaux Stanescu Cousin Syndrome (Chondrodysplasia, Lethal Recessive) Marshall Syndrome Martin Bell Syndrome Martinez Monasterio Pinheiro Syndrome Martsolf Syndrome (Cataract with Mental Retardation and Hypogonadism) Massa Casaer Ceulemans Syndrome (Arthrogryposis Multiplex Congenita Lissencephaly) Mastocytosis Mastroiacovo de Rosa Satta Syndrome Mathieu De Broca Bony Syndrome (Cleft Palate, Short Stature, Vertebral Anomalies) Mathew Wood Syndrome (Anophthalmia and Pulmonary Hypoplasia) Maumenee Syndrome (Canthi Chorioretinal Degeneration, Cleft Lateral, Cleft Lower Lip) May Hegglin Anomaly/Thrombocytopenia (Dohle's Bodies Myelopathy, Hegglin's Disease, Leukocytic Inclusions with Platelet Abnormality, MHA) Mayer Rokitansky Kuster Hauser Syndrome (Mullerian Agenesis, Vaginal Agenesis, Congenital Absence of Vagina) MCAD Deficiency McArdle Disease (Glycogen Storage Disease, Type V) McCallum Macadam Johnston Syndrome (Angiokeratoma with Mental Retardation and Coarse Face) McCune-Albright Syndrome McDowall Syndrome (Cutis Verticis Gyrata Mental Deficiency) McKusick Kaufman Syndrome (Hydrometrocolpos Syndrome; Hydrometrocolpos with Postaxial Polydactyly, and Congenital Heart Malformation; Kaufman McKusick Syndrome) MCPH Syndrome (Coloboma Porencephaly Hydronephrosis, Merlob Syndrome) McPherson Clemens Syndrome Meckel (Gruber) Syndrome (Dysencephalia Splanchnocystica) Meckel-Like Syndrome Medial Tibial Torsion Mediterranean Fever Medullary Cystic Kidney Disease Megalencephaly Megalodactyly Mehta Lewis Patton Syndrome (Congenital Heart Disease Ptosis Hypodontia Craniosynostosis) Meier Rotschild Syndrome (Amyoplasia Mandibulofacial Dysostosis) Meigel Disease (Alpha 2 Deficient Collagen Disease) MELAS Syndrome Melanoma Meleda Disease (Keratoderma Palmoplantaris Transgrediens, Mal de Meleda) Melnik Needles Osteodysplasty/Syndrome (Osteodysplasty of Melnik and Needles) Mende Syndrome Mengel Konigsmark Syndrome (Conductive Deafness Malformed External Ear) Meniere's Disease Menkes (Kinky Hair) Disease Meningocele Meningomyelocele Mental Retardation Meretoja Syndrome (Corneal Dystrophy with Pigmentary Anomaly and Malabsorption) Merlob Syndrome Mesiodens-Cataract Syndrome Mesodermal Dysmorphodystrophy Mesoectodermal Dysplasia Mesomelia Synostoses Syndrome Mesomelic Dwarfism Metabolic Acidosis Metachromatic Leukodystrophy (Arylsulfatase A [ARSA]  Deficiency; Cerebral Sclerosis, Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Greenfield Disease; Sulfatide Lipidosis) Metaphyseal Chondrodysplasia, McKusick Type Metatarsus Metatropic Dysplasia Meulengracht's Disease Methionine Synthase Deficiency (N5-Methylhomocysteine Transferase Deficiency) Micro Syndrome Microcephaly Microencephaly Microgastria-Limb Reduction Defects Association Microgyria Microphthalmia/Microphtalmos Microspherophakia Metaphyseal Dysplasia Microstoma Microtia Microvillous Inclusion Disease (Congenital Familial Protracted Diarrhea, Congenital Microvillous Atrophy, Davidson's Disease) MIDAS Syndrome Midgut Volvulus Migrane Miller Syndrome Miller-Dieker (Lissencephaly) Syndrome (Agyria-Pachygyria, Type 1; Lissencephaly Syndrome, Type 1) MILS Syndrome Missing Lateral Incisors Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Syndrome Moebius Syndrome (Congenital Facial Diplegia) Mohr Syndrome (Orofaciodigital Syndrome, Type II) Mohr-Tranebjaerg Syndrome (Dystonia-Deafness Syndrome; Deafness-Dystonia-Optic Atrophy Syndrome; Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency) Moloney Syndrome (Choroidal Atrophy Alopecia) Monosomy X Moore Smith Weaver Syndrome (Bone Dysplasia, Moore Type) Morgagni Turner Albright Syndrome Morquio (Brailsford) Syndrome (Mucopolysaccharidosis [MPS]-IV) Morse Syndrome (Holoprosencephaly-Hypokinesia Syndrome) Mosaic Variegated Aneuplody Microcephaly Syndrome Motor and Sensory Neuropathy Mount Reback Syndrome Moyamoya Disease Moynahan (Alopecia) Syndrome (Alopecia Epilepsy Oligophrenia Syndrome of Moynahan) Muckle Wells Syndrome (Urticaria-Deafness-Amyloidosis) Mucoepithelial Dysplasia(, Hereditary) Mucolipidosis Mucopolysaccharidosis' Muller Barth Menger Syndrome (Cerebral Malformations Hypertrichosis Claw Hands) Mullerian Agenesis Multiple Cartilaginous Exostoses Multiple Enchodromatosis Multiple Epiphyseal Dysplasia Multiple Hamartoma Syndrome Multiple Hereditary Exostoses Multiple Lentingines Syndrome Multiple Osteochondromatosis Multiple Pterygium Syndrome (Escobar Syndrome, Pterygium Colli Syndrome, Pterygium Universale) Multiple Sulfatase Deficiency Multiple Synostoses Syndrome MURCS Association (DK--Phocomelia Syndrome; Phocomelia, Thrombocytopenia, Encephhalocele, Urogenital Malformations; Mullerian Duct and Renal Agenesis with Upper Limb and Rib Anomalies) Muscular Atrophy Muscular Dystrophy Mutational Dysostosis Myasthenia Gravis Myelocerebellar Disorder (Ataxia Pancytopenia Syndrome) Myoadenylate Deaminase Deficiency Myopathy Myotonia Congenita Myotonic Dystrophy (Steinert Disease) Myotubular Myopathy Myxoma

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