Rare Disease Library

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Acropectorovertebral dysplasia

F syndrome

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

Banki syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Behr syndrome

Behr complicated familial optic atrophy

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Biliary atresia with splenic malformation syndrome

BASM syndrome

Blau syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bloom syndrome

BSyn

Blue rubber bleb nevus

Bean syndrome · BRBN

BNAR syndrome

Bifid nose with or without anorectal and renal anomalies

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Böök syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Bowen syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Braddock syndrome

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

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

BRESEK syndrome

BRESHECK syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brugada syndrome

Ventricular fibrillation, Brugada type

C syndrome

OTCS · Opitz C trigonocephaly

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

Carpenter-Waziri syndrome

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Gardner syndrome

H syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome