Rare Disease Library

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Acitretin/etretinate embryopathy

Fetal acitretin/etretinate syndrome · Retinoid embryopathy

Acropectorovertebral dysplasia

F syndrome

Aminopterin/methotrexate embryofetopathy

Aminopterin embryopathy syndrome · Fetal aminopterin syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cocaine embryofetopathy

Fetal cocaine syndrome

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

Femoral-facial syndrome

FFS · FHUFS

Fetal alcohol syndrome

ARBD · ARND

Fetal anticonvulsant syndrome

FACS · Fetal AEDS

Fetal carbamazepine syndrome

Fetal cytomegalovirus syndrome

Mother-to-child transmission of cytomegalovirus syndrome · Antenatal cytomegalovirus infection

Fetal encasement syndrome

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

Fetal iodine syndrome

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

Fetal minoxidil syndrome

Minoxidil antenatal exposure

Fetal parvovirus syndrome

Mother-to-child transmission of parvovirus syndrome · Parvovirus antenatal infection

Fetal trimethadione syndrome

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

FRAXF syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome