Rare Disease Library

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

Frontonasal dysplasia

Median cleft face syndrome

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

OBSOLETE: ATR-X-related syndrome

OBSOLETE: Auriculoocular anomalies-cleft lip syndrome

OBSOLETE: AymÚ-Gripp syndrome

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome

OBSOLETE: Jorgenson-Lenz syndrome

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome

OBSOLETE: Karandikar-Maria-Kamble syndrome

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

OBSOLETE: Cerebrorenodigital syndrome

OBSOLETE: Chondrodysplastic malformation syndrome

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome

OBSOLETE: CAVC-left heart obstruction syndrome

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

OBSOLETE: Dennis-Cohen syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

OBSOLETE: Foix-Alajouanine syndrome

OBSOLETE: Subacute necrotizing myelitis · OBSOLETE: Angiodysgenetic necrotizing myelopathy

OBSOLETE: Heckenlively syndrome

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

OBSOLETE: Infantile non-syndromic cataract

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

OBSOLETE: Intermediate stomatocytosis syndrome

OBSOLETE: Isolated cloverleaf skull syndrome

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

OBSOLETE: Lymphedema-cleft palate syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome