Rare Disease Library

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

Berant syndrome · Capra-DeMarco syndrome

Dandy-Walker malformation-facial hemangioma syndrome

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Diaphragmatic or abdominal wall malformation

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

Digestive tract malformation

Disorder of methionine cycle and sulfur amino acid metabolism

Cytosolic methyl group transfer or sulfur amino acid metabolism disorder

Dural sinus malformation with arteriovenous shunt

Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Encephalopathy due to sulfite oxidase deficiency

Esophageal malformation

Malformation of the esophagus

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

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

Familial intraosseous vascular malformation

Hereditary intraosseous vascular malformation · VMOS

Fast-flow vascular malformation

Rare arteriovenous malformation

Female adnexal tumor of probable Wolffian origin

FATWO

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

Gastroduodenal malformation

Malformation of the stomach and the duodenum

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

Genetic cardiac malformation

Genetic central nervous system malformation

Genetic cerebellar malformation

Genetic cerebral malformation

Genetic brain malformation

Genetic complex vascular malformation with associated anomalies

Genetic hemangiolymphangioma

Genetic congenital limb malformation

Genetic congenital malformation of the eye with glaucoma as a major feature

Genetic cranial malformation

Genetic digestive tract malformation

Genetic head and neck malformation

Genetic malformation syndrome with odontal and/or periodontal component

Genetic malformation syndrome with short stature

Genetic neurovascular malformation

Genetic non-syndromic central nervous system malformation

Genetic non-syndromic renal or urinary tract malformation

Genetic otorhinolaryngological malformation

Genetic posterior fossa malformation

Genetic renal or urinary tract malformation

Genetic respiratory malformation

Genetic respiratory or mediastinal malformation

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Genetic syndrome with a cerebellar malformation as a major feature

Genetic syndrome with a Dandy-Walker malformation as a major feature