Rare Disease Library

Auriculocondylar syndrome

Question mark ear syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

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

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Marfan syndrome

MFS

Marshall syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

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

MARCH syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Qazi-Markouizos syndrome

Dysharmonic skeletal maturation-muscular fiber disproportion syndrome

Rare developmental defect during embryogenesis

Malformation syndrome

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

Right isomerism

Ivemark syndrome · Right atrial isomerism

RIN2 syndrome

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

Scalp-ear-nipple syndrome

Finlay-Marks syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome