Rare Disease Library

Fragile X syndrome

FRAXA syndrome · FXS

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Fraser-like syndrome

Frasier syndrome

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

FRAXF syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

Dermochondrocorneal dystrophy

François syndrome

Familial retinal arterial macroaneurysm

FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Fragoso-Cantú syndrome

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Franek-Bocker-Kahlen syndrome

Pancreatic solid pseudopapillary neoplasm

SPN · Frantz tumor

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Calvarial doughnut lesions-bone fragility syndrome

Familial doughnut lesions of skull

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

Li-Fraumeni syndrome

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

New-onset refractory status epilepticus

NORSE

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

OBSOLETE: Rare genetic refraction anomaly

OBSOLETE: Symptomatic form of fragile X syndrome in female carriers

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Kugelberg-Welander disease · SMA

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Rare refraction anomaly

Refractory anemia with excess blasts in transformation

RAEB-t

Refractory celiac disease

Refractory CD · Refractory sprue

Refractory cytopenia with multilineage dysplasia

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

Wolfram-like syndrome

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Suarez-Stickler syndrome

X-linked osteoporosis with fractures