Rare Disease Library

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital partial pulmonary venous return anomaly

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital total pulmonary venous return anomaly

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Congenital vascular bone syndrome

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Hantavirus pulmonary syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Intralobar congenital pulmonary sequestration

Congenital intrapulmonary sequestration · Intralobar congenital bronchopulmonary sequestration

Lethal congenital contracture syndrome

LCCS

Postsynaptic congenital myasthenic syndrome

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Synaptic congenital myasthenic syndrome