Rare Disease Library

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

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Mazabraud syndrome

Myxoma with fibrous dysplasia

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser 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

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

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

Mills syndrome

MMEP syndrome

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

MOMO syndrome

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

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

MRCS syndrome

Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Neonatal Marfan syndrome

Neonatal MFS

Nevo syndrome

Cerebral gigantism, Nevo type

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome