Meckel's Syndrome (FMD) describes a severe, multivisceral malformation syndrome that is usually lethal in the first few days of life, the main characteristics of which are renal cysts in combination with CNS development, liver pain, bile duct dysplasia and polydactyly.
The MRKH syndrome is characterized by aplasia of both the uterus and the upper two-thirds of the vagina.
Marshall Syndrome is a multisystemic disease. Characteristic symptoms are sensorineural deafness, craniofacial anomalies, ocular abnormalities and anhidrotic ectodermal dysplasia.
Marshall-Smith syndrome is a disease with accelerated bone age and large growth at birth.
Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type 6 (MPS6), is a metabolic disease, more specifically a lysosomal storage disease, with progressive multisystem involvement, due to the lack of activity of arylsulfatase B.
Marinesco-Sjögren syndrome (MSS) is an autosomal recessive cerebellar ataxia. The disease manifests in infancy.
Marburg fever, caused by the Marburg virus, is a severe hemorrhagic disease that begins with malaise and fever and can then lead to multiple organ failure with gastrointestinal symptoms, shock and bleeding.
Mantle cell lymphoma (MCL) is a rare form of non-Hodgkin's lymphoma.
The mandibulo-facial dysostosis-microcephaly syndrome manifests already at early age and involves symptoms such as mandibulo-facial dysostosis, microcephaly, short stature, mental retardation and pronounced delayed language acquisition.
Mal de Meleda is an autosomal recessive inherited skin disease, and is caused by a mutation in the SLURP1 gene.
The short-rib polydactyly syndrome type Majewksi one of the congenital, hereditary osteochondrodysplasias and is characterized by short ribs and underdeveloped lungs.
The Majeed syndrome is defined as the combination of chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA) and inflammatory dermatosis.
The Maffucci syndrome describes an extremely rare, usually sporadic developmental disorder of the mesoderm.
LAL deficiency is an autosomal recessive lysosomal storage disease caused by deficiency or complete absence of the LAL enzyme.
The x-linked lymphoproliferative disease describes a hereditary immunodeficiency.
Lymphangioleiomyomatosis, or LAM, is a rare lung disease that manifests in adulthood and occurs almost exclusively in women.
Lupus erythematosus tumidus is a non-scarring variant of cutaneous lupus erythematosus.
Pulmonary hypoplasia refers to a lack of development of the lung.
The connective tissue disease belonging to Loey-Dietz syndrome combines different symptoms. Of particular interest for the diagnosis are aortic aneurysms, hypertelorism, cleft palate and / or uvula bifida and tortuous arteries throughout the body.
Lipoprotein lipase deficiency (LPLD) is a rare, autosomal recessive metabolic disease.