Rare Disease Library

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with odontal and/or periodontal component

Malformation syndrome with short stature

Rare developmental defect during embryogenesis

Malformation syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Biliary atresia with splenic malformation syndrome

BASM syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Genetic malformation syndrome with odontal and/or periodontal component

Genetic malformation syndrome with short stature

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

OBSOLETE: Chondrodysplastic malformation syndrome

OBSOLETE: Ectodermal malformation syndrome associated with ocular features

OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q29 microduplication syndrome

Trisomy 3q29

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Acropectorovertebral dysplasia

F syndrome

Acute radiation syndrome

Acute radiation sickness

Anorectal malformation

ARM

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aortic malformation

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Auriculocondylar syndrome

Question mark ear syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Bronchial malformation

C syndrome

OTCS · Opitz C trigonocephaly

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome