Rare Disease Library

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Lateral meningocele syndrome

Lehman syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Monoamine oxidase A deficiency

Brunner syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome