Rare Disease Library

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Marden-Walker syndrome

Marfan syndrome

MFS

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Marin-Amat syndrome

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Martínez-Frías syndrome

Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Mazabraud syndrome

Myxoma with fibrous dysplasia

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Micro syndrome

WARBM · Warburg micro syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

MPPC syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Mills syndrome

MIRAGE syndrome

Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

Mitchell Syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

Moebius syndrome

Möbius syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q