Rare Disease Library

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Acrorenal syndrome

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Branchial arch or oral-acral syndrome

Branchio-oculo-facial syndrome

BOFS

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Branchiootic syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

BRESEK syndrome

BRESHECK syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

Radio-renal syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS