Rare Disease Library

Oley syndrome

Congenital hypotrichosis-milia syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Amaurosis-hypertrichosis syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

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 central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital microcoria

Congenital miosis

Congenital myasthenic syndrome

CMS

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

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

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

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypomyelination-congenital cataract syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Joubert syndrome with hepatic defect

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

Lethal congenital contracture syndrome

LCCS

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

OBSOLETE: Congenital cataract-ichthyosis syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Postsynaptic congenital myasthenic syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Synaptic congenital myasthenic syndrome

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD