Rare Disease Library

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

Friedman-Goodman syndrome · FACES syndrome

Acrogeria

Acrogeria, Gottron type · Acrometageria

Acropectorovertebral dysplasia

F syndrome

Angelman syndrome

Asherman syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

C syndrome

OTCS · Opitz C trigonocephaly

CHAND syndrome

Baughman syndrome · CHANDS

Cogan syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Dermochondrocorneal dystrophy

François syndrome

Donnai-Barrow syndrome

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

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman 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

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin 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

Fried's tooth and nail syndrome

Frontofacionasal dysplasia

Gollop syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gerstmann syndrome

Gitelman syndrome

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

GEMSS syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome