Rare Disease Library

Genetic syndrome with limb malformations as a major feature

Genetic syndromic esophageal malformation

Genetic urogenital tract malformation

Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

Global cerebellar malformation

Diffuse cerebellar malformation

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Gollop-Wolfgang complex

Bifid femur-monodactylous ectrodactyly syndrome

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

Hereditary neurocutaneous malformation

Hutchinson-Gilford progeria syndrome

HGPS · Progeria

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Intestinal malformation

Malformation of the intestine

Isolated congenital auditory ossicle malformation

Congenital auditory ossicle malformation without external ear abnormality

Isolated Dandy-Walker malformation

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated rare lymphatic malformation

LM · Lymphangioma

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Morse-Rawnsley-Sargent syndrome

Lethal polymalformative syndrome, Boissel type

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

Malformation of the anal canal and the rectum

Malformation of the neurenteric canal, spinal cord and column

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with odontal and/or periodontal component

Malformation syndrome with short stature

Malformative syndrome with dentinogenesis imperfecta

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Microcephalic cortical malformations-short stature due to RTTN deficiency

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcystic lymphatic malformation

Capillary lymphangioma · Capillary lymphatic malformation

Midline cerebral malformation

Midline brain malformation

Mixed cystic lymphatic malformation

Mixed cystic lymphangioma

Mucocutaneous venous malformations

Cutaneous and mucosal venous malformation · VMCM

Multiple self-healing squamous epithelioma

Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease

Multiple sulfatase deficiency

MSD · Austin disease

Myelic limited dorsal malformation

MyeLDM

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Neurovascular malformation

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations