Rare Disease Library

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

Noble-Bass-Sherman syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Asherman syndrome

Banki syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Biliary atresia with splenic malformation syndrome

BASM syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

CHAND syndrome

Baughman syndrome · CHANDS

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

N syndrome

Noonan syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Sheehan syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH