Rare Disease Library

Multinodular goiter-cystic kidney-polydactyly syndrome

Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Duane retraction syndrome

DRS · DURS

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Fibrous dysplasia/McCune-Albright syndrome

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

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hinman syndrome

HAS · HS

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

Lateral meningocele syndrome

Lehman syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Majeed syndrome

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

Marfan syndrome

MFS

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

MEPAN syndrome

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

Morvan syndrome

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

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

MARCH syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

RIN2 syndrome

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

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Smith-Fineman-Myers syndrome