Rare Disease Library

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures 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 Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

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

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

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

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Morse-Rawnsley-Sargent syndrome

Lethal multiple congenital anomalies/dysmorphic syndrome

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

Synaptic congenital myasthenic syndrome