Rare Disease Library

Balint syndrome

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

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

Acropectorovertebral dysplasia

F syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Ataxia-telangiectasia

Louis-Bar syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Baller-Gerold syndrome

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Bangstad syndrome

Ataxia-diabetes-goiter-gonadal insufficiency 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

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism 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

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

CHAND syndrome

Baughman syndrome · CHANDS

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

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

Berant syndrome · Capra-DeMarco syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome