Rare Disease Library

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Congenital and infantile nephrotic syndrome

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital cataract-anterior segment dysgenesis syndrome

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

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital mesoblastic nephroma

Congenital microcoria

Congenital miosis

Congenital microgastria

Congenital myasthenic syndrome

CMS

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital varicella syndrome

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

Congenital vascular bone syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Lethal congenital contracture syndrome

LCCS

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

OBSOLETE: Congenital hydronephrosis

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Porencephaly-microcephaly-bilateral congenital cataract syndrome

Synaptic congenital myasthenic syndrome

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD