Rare Disease Library

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Down syndrome

Trisomy 21

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC 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

Faciocardiorenal syndrome

Eastman-Bixler 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

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

FLOTCH syndrome

Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FHONDA syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

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

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frasier syndrome

FRAXF syndrome

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Frontonasal dysplasia

Median cleft face syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome