Rare Disease Library

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic anorectal malformation without fistula

Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula

Non-syndromic central nervous system malformation

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cloacal malformation

Non-syndromic diaphragmatic or abdominal wall malformation

Non-syndromic diaphragmatic or thoracic malformation

Non-syndromic esophageal malformation

Non-syndromic gastroduodenal malformation

Non-syndromic intestinal malformation

Non-syndromic limb malformation

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

Non-syndromic rectal atresia

Non-syndromic ARM with rectal atresia · Non-syndromic anorectal malformation with rectal atresia

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

Non-syndromic renal or urinary tract malformation

Non-syndromic respiratory or mediastinal malformation

Non-syndromic urogenital tract malformation

Non-syndromic urogenital tract malformation of female

Non-syndromic urogenital tract malformation of male

Non-syndromic uterovaginal malformation

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

OBSOLETE: Syndromic malformation of the optic disc

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rare breast malformation

Rare congenital non-syndromic heart malformation

Rare syndrome with cardiac malformations

Rare vaginal malformation

Respiratory malformation

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Simple vascular malformation

Slow-flow malformation, venous type

Rare venous malformation

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

Split cord malformation type I

Diastematomyelia · SCM type I

Split-foot malformation-mesoaxial polydactyly syndrome

SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome

Sternal malformation-vascular dysplasia syndrome