Rare Disease Library

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

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 high airway obstruction syndrome

CHAOS

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

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

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypomyelination-congenital cataract syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Lethal congenital contracture syndrome

LCCS

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lethal congenital contracture syndrome type 3

LCCS3

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Postsynaptic congenital myasthenic syndrome

Rare congenital non-syndromic heart malformation

Reversible cerebral vasoconstriction syndrome

RCVS

Ring chromosome syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Synaptic congenital myasthenic syndrome

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy