Rare Disease Library

Syndrome or malformation associated with head and neck malformations

Syndrome with a cerebellar malformation as a major feature

Syndrome with a Dandy-Walker malformation as a major feature

Syndrome with limb malformations as a major feature

Syndromic diaphragmatic or abdominal wall malformation

Syndromic diaphragmatic or thoracic malformation

Syndromic esophageal malformation

Syndromic gastroduodenal malformation