Rare Disease Library

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Adrenogenital syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Cogan syndrome

Congenital and infantile nephrotic 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 generalized hypercontractile muscle stiffness syndrome

Congenital high airway obstruction syndrome

CHAOS

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital or early infantile CACH syndrome

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

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

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

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

Marfan syndrome

MFS

Multiple congenital anomalies/dysmorphic syndrome

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Neonatal Marfan syndrome

Neonatal MFS

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Postsynaptic congenital myasthenic syndrome