Rare Disease Library

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Fragile X syndrome

FRAXA syndrome · FXS

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Lethal recessive chondrodysplasia

Maroteaux-Stanescu-Cousin syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

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

Marcus-Gunn syndrome

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

Marfan syndrome

MFS

Marin-Amat syndrome

Marshall syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

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

MARCH syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Primary progressive aphasia

Mesulam syndrome · PPA

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome